DNA Today: A Genetics Podcast

For the third year in a row, DNA Today is bringing you inside the American Society of Human Genetics (ASHG) Annual Meeting, and this year, we've taken our genetics coverage international! We're reporting from beautiful Montréal, Canada, where thousands of geneticists, researchers, clinicians, and industry leaders gathered to share the latest breakthroughs shaping the future of genomics. From cutting-edge technologies to big questions about the future of genetic medicine, there's no shortage of exciting science to unpack. And don't worry, we're bringing you all the highlights, no passport required, eh? In this episode, host Kira Dineen takes you behind the scenes of ASHG 2026 through two special segments recorded at the conference. First, we stop by the Nabsys booth to chat with Founder and CEO Barrett Bready, MD, about how Electronic Genome Mapping (EGM) is advancing our ability to detect structural variants. We explore how the technology compares with traditional approaches, its emerging applications in hematologic malignancies, and the latest research Nabsys is showcasing at ASHG. For our second segment, we're live on location! DNA Today teamed up with Wiley's Advanced Portfolio to co-host a special brunch featuring a live podcast recording right from the conference. With breakfast on the table and big questions on the menu, Kira moderated a conversation with leading genetics researchers and publishing experts about the discoveries, challenges, and opportunities shaping the field. From translating genetic findings into new therapies and harnessing AI to accelerate research to fostering interdisciplinary collaboration and rethinking the role of scientific publishing, this discussion goes beyond the conference presentations to explore where genetics is headed next. Whether you joined us in Montréal or are experiencing the conference from afar, consider this your front-row seat to some of the conversations shaping the future of genetics. We're serving up fresh science with a side of maple syrup, because when it comes to genetics, there's always more to discover, eh? Nabsys Segment Guest  Barrett Bready, MD is Founder and CEO of Nabsys. He is passionate about the impact that advanced technology can have on the understanding of disease as well as on its diagnosis and treatment.  He has raised $150 million to realize a new way of analyzing DNA that uses proprietary solid-state electronic nanodetectors to analyze very long molecules, with an initial focus on genomic structural variation. Barrett is an adjunct professor at Brown University where he lectures on the rapidly evolving business of life sciences. He serves as a commissioner of the I-195 Redevelopment District Commission, a major land redevelopment initiative in downtown Providence, RI with a focus on life sciences and other high-technology sectors. He has received numerous awards including, in 2011, Rhode Island Innovator of the Year, and in 2018, a career achievement award from the Warren Alpert Medical School of Brown University. Barrett graduated from the highly competitive Program in Liberal Medical Education (PLME) at Brown University where he received an M.D. and an Sc.B. in Physics and won the undergraduate physics award (the Lindsay Prize) and the Galletti Prize for physics in medicine. Nabsys Discussion Topics ASHG 2026 conference highlights and a presentation on electronic genome mapping (EGM) in hematologic malignancies Why genomic structural variants matter in cancer and rare disease How traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variation Nabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structure How EGM uses electrical detection to read sequence-specific tags on long DNA molecules Identifying deletions, insertions, inversions, and translocations by comparing tag patterns How EGM relates to traditional cytogenetic methods such as FISH and karyotyping The nan

CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics. In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations. From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient. Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment. Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model. This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation.  Episode Discussion Topics: The 2018 announcement of the world’s first CRISPR-edited babies in China Why He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlash The difference between editing embryos and germline cells versus editing somatic cells in a patient What the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technology How the field of CRISPR medicine has evolved since 2018 How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular disease Using CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterol The development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery disease The possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatments How cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiency What CPS1 deficiency is and why it can become life-threatening shortly after birth How Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatment Why KJ’s specific genetic variant was a candidate for base editing How base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNA Developing a gene-editing therapy specifically for a single patient Delivering the gene editor to liver cells using lipid nanoparticles Why the liver is an especially promising target for in vivo gene-editing therapies The collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possible Navigating FDA review for a therapy that had never previously been given to a human Why KJ received multiple doses of the therapy Early signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medication Why researchers are careful not to describe KJ’s treatment as a cur

Please note this episode is only available on our website, DNAToday.com under Episode 415, and access is limited to those in the United States.  In just a few years, achondroplasia treatment has expanded from no approved precision medicines to multiple approaches targeting the condition’s underlying biology. In this episode, we continue our conversation with Dr. Ravi Savarirayan, a global leader in skeletal dysplasia care and a lead investigator across multiple achondroplasia clinical development programs. Dr. Savarirayan previously joined us on Episode 401, where we explored the first approved precision treatment for achondroplasia and international guidance for its use. This time, we take a broader look at the rapidly evolving achondroplasia treatment landscape, including how different therapeutic approaches target FGFR3 signaling, how researchers interpret clinical trial outcomes, and what results from the Phase 3 PROPEL 3 study of investigational infigratinib could mean for children and families. We also discuss why treatments cannot be reliably compared using results from separate clinical trials, the importance of studying outcomes beyond growth, and the questions that remain about long-term safety, functional benefits, treatment selection, and switching therapies. Thank you to BridgeBio for sponsoring this episode. Episode Discussion Topics How the achondroplasia treatment landscape has evolved in the last seven years How achondroplasia affects more than height How current and investigational therapies target FGFR3 signaling in different ways What annualized growth velocity, height Z-scores, and body proportionality reveal in clinical trials Key findings from the Phase 3 PROPEL 3 study of investigational infigratinib What researchers can and cannot yet predict about final adult height based on current data Why body proportionality may be an important clinical and functional outcome How researchers are evaluating potential effects on mobility, reach, independence, and daily activities The long-term safety questions that remain when treatment begins in childhood Why results from separate achondroplasia trials should not be compared directly How families and healthcare providers can weigh treatment benefits, risks, administration, and personal goals What is being studied in hypochondroplasia and other conditions involving overactive FGFR3 signaling Our Guest: Dr. Ravi Savarirayan Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia. Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA).    Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries. His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow. Resources BridgeBio Acho

When patients relocate or relatives living abroad need cascade testing, finding a qualified genetics professional in another country can be surprisingly difficult. The new Global Genetics Directory aims to change that through a free, verified, peer-to-peer resource connecting genetics and genomics professionals worldwide. In this episode of DNA Today, recorded in person at our studio, host Kira Dineen is joined by genetic counselor Monisha Sebastin, Founder and Principal Investigator of the Global Genetics Directory. Monisha explains how her international background and leadership within the genetics community revealed the need for a centralized global resource. We explore how the directory was developed with support from the prestigious Audrey Heimler Special Projects Award, how professionals are verified across different credentialing systems, and why the team chose a closed, consent-based model rather than a publicly searchable directory. Monisha also shares how the directory could strengthen cross-border patient care, cascade testing, professional collaboration, and access to genetics services around the world. Episode Discussion Topics Why finding genetics professionals in other countries can be challenging How Monisha’s experiences in India and the United States shaped her perspective on global access When international connections are especially important for patient care and cascade testing What genetics professionals around the world said they needed from a global directory How NSGC’s Audrey Heimler Special Projects Award supported the project How registration, credential verification, and directory searches work Why eligibility is limited to credentialed genetics and genomics professionals How the directory accommodates differences in professional titles, credentials, and scopes of practice Why membership is free The benefits of a closed, peer-to-peer, and consent-based model How patients seeking care abroad can work with their current providers The team’s vision for expanding the directory and strengthening international collaboration About Monisha Sebastin Monisha Sebastin, MS, LCGC, is the Founder and Principal Investigator of the Global Genetics Directory. She is also a senior pediatric genetic counselor in New York City, where she specializes in cardiogenetics and research. Monisha grew up in India and earned her undergraduate degree in genetic engineering before completing her genetic counseling training at Sarah Lawrence College. Her international background, clinical experience, and leadership within the global genetic counseling community helped inspire the development of the Global Genetics Directory. The directory was developed with support from the Audrey Heimler Special Projects Award for Monisha’s project, “Evaluating International Genomics Providers’ Needs and Perspectives on a Global Genomics Services Directory.” Resources & Links Global Genetics Directory To email directly, contact@globalgeneticsdirectory.com  National Society of Genetic Counselors (NSGC) NSGC’s Audrey Heimler Special Projects Award Find A Genetic Counselor Directory  Relevant DNA Today Podcast Episodes #109 Shenela Lakhani on Genetic Counseling in Qatar — Hear from Qatar’s first certified genetic counselor about establishing the profession in a new country and adapting counseling across cultures. #110 Gattaca, 22 Years Later with Catherine Mayo and Ale Cantu — Catherine Mayo’s first DNA Today appearance examines the film’s enduring relevance to genetic counseling, reproductive decision-making, and genetic discrimination. #114 Matt Burgess on Australasian Genetic Counseling — Explore genetic counseling education, certification, private practice, and healthcare delivery in Australia and across the Australasian region. #212 NSGC Recap 2022 — Meet Monisha and learn about the clinical care and compassion that earned her the Heart of Genetic Counseling Award, along with her work supporting international genetic coun

For most people, eating is an ordinary part of the day. But when you have phenylketonuria (PKU), every meal can involve calculations, preparation, medical monitoring, and decisions that affect how your brain and body feel. This is DNA Today, a podcast from Gene Pool Media, where we explore the breakthroughs, challenges, and human impact of genetics and genomics. I’m your host Kira Dineen, a genetic counselor and award-winning science podcaster and speaker. This is a continuation of our PKU series, sponsored by PTC Therapeutics. In the first episode (Episode 399), we explored how PKU helped launch newborn screening and why early diagnosis can completely change a child’s future. In this second episode, we’re looking at what comes next: what it actually means to manage PKU through food, and how this affects school, friendships, celebrations, mental health, independence, and a person’s relationship with food. Joining us are a mother and daughter who have experienced that journey together: Dr. Jennifer Brown is a geneticist, science communicator, and author of When the Baby Is Not OK: Hopes & Genes, a wonderful memoir about genetics, motherhood, and raising children with PKU. Lillian Isabella is a playwright, advocate, and graduate student in Columbia University's Narrative Medicine program who served six years on the National PKU Alliance board and lives with PKU. She is Dr. Brown's daughter.  Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice.    Episode Discussion Topics What a “low-protein diet” actually requires for someone living with PKU How protein and phenylalanine tolerance are determined and monitored over time The work involved in grocery shopping, measuring food, reading labels, preparing specialized meals, and ordering medical foods Dr. Brown’s experience learning to treat feeding her newborn as a form of medical care Raising two daughters with PKU and balancing dietary management with everyday family life Lillian’s relationship with PKU formula and medical shakes throughout different stages of life How elevated phenylalanine levels can affect focus, energy, mood, and daily functioning Navigating school, birthday parties, holidays, camps, travel, dating, and other food-centered social situations When Lillian first became aware that she ate differently from her peers How constant food monitoring can influence a person’s emotional relationship with eating PKU-related frustration, burnout, anxiety, guilt, and resentment How language used by clinicians can shape a child’s identity and relationship with their condition Transitioning from parent-managed PKU care to greater independence in adolescence and adulthood Returning to metabolic care after time away Lillian’s experience turning her lived experience with PKU into advocacy Advice for parents who have just learned their baby has PKU How guidance and support may change through early childhood, adolescence, and adulthood Dr. Brown and Lillian’s hopes for the future of PKU care and what could make everyday management easier Resources & Links When the Baby Is Not OK: Hopes & Genes by Dr. Jennifer Brown PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms Baby’s First Test: Newborn Screening Information National PKU Alliance Relevant DNA Today Podcast Episode Episode 399: PKU and the History of Newborn Screening – In the first installment of this series, we explore how PKU helped launch newborn screening and why early diagnosis can dramatically change a child’s future.   Connect with DNA Today: You never have to wait long for a new episode of DNA Today, we release episodes every Friday! In the meantime, exp

Prenatal cell-free DNA screening is designed to assess a pregnancy for chromosome conditions; but in rare cases, it can reveal something entirely unexpected about the pregnant patient’s own health. In this episode, Kira Dineen is joined in-person by Dr. Diana Bianchi to explore how unusual or non-reportable cfDNA screening results can sometimes be a signal of an undiagnosed maternal cancer. Dr. Bianchi shares findings from the NIH’s ongoing IDENTIFY study, which is investigating why these unexpected cfDNA patterns occur, how clinicians can distinguish potential malignancy from other explanations, and what should happen next when a prenatal screening result raises concern about maternal cancer. We recorded this episode in person at AGBT Precision Health, one of our favorite conferences of the year. The conference wrapped this past Wednesday and brought together leaders across genomics, precision medicine, research, and clinical care in an intimate setting that makes it easy to connect, learn, and have thoughtful conversations. The conference is also hosted at a beautiful resort in the San Diego area, which makes the experience especially memorable. We highly recommend attending next year’s AGBT Precision Health meeting, taking place September 13–15, 2027, at the same gorgeous location. We already put it on our calendars!    In This Episode, We Discuss: What “non-reportable” or “uninterpretable” cfDNA results actually mean How unusual cfDNA results differ from typical test failures Determining whether an unexpected cfDNA signal originates from the fetus, placenta, or pregnant patient Maternal causes of discordant cfDNA results, including fibroids, clonal hematopoiesis, a demised twin, and malignancy Why tumors can release DNA into the bloodstream that is detected during prenatal screening Why Dr. Bianchi and her colleagues launched the prospective IDENTIFY study in 2019 What participants undergo when they travel to the NIH Clinical Center for evaluation Results from the first 107 IDENTIFY participants, including the 52 participants diagnosed with cancer Why lymphoma is frequently identified through these unusual cfDNA patterns Chromosomal patterns that are particularly suspicious for malignancy Why gains and losses involving three or more chromosomes can be an important warning sign Why symptoms, physical examinations, and routine bloodwork may not reliably identify patients with occult cancer The role of rapid whole-body MRI in evaluating patients for malignancy Approaches clinicians can consider when whole-body MRI is not readily available Diagnosing and treating cancer during pregnancy What researchers have learned from participants whose evaluation does not identify cancer How the IDENTIFY study has expanded since its original published cohort How laboratories should report cfDNA patterns that may suggest maternal malignancy The need for professional society guidelines for clinicians receiving these unusual results What genetic counselors, OB/GYNs, and maternal-fetal medicine specialists should do when they receive a concerning non-reportable NIPS result About Dr. Diana Bianchi Diana W. Bianchi, MD, is a physician-scientist and a pioneer in noninvasive prenatal genetic testing and fetal cell microchimerism research. She previously served as Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development at the National Institutes of Health and was a senior investigator in the Center for Precision Health Research at the National Human Genome Research Institute. Her research has helped define how prenatal cell-free DNA sequencing can unexpectedly identify genomic patterns associated with maternal malignancy. In 2019, Dr. Bianchi and colleagues launched the IDENTIFY Study — Incidental Detection of Maternal Neoplasia Through Non-Invasive Cell-Free DNA Analysis — to investigate the biological causes of unusual or non-reportable prenatal cfDNA results and develop evidence-based approac

What happens during genetic counseling after someone develops colon cancer at a young age and their tumor testing raises concern for Lynch syndrome? This is the eighth installment in our Mock Genetic Counseling Session Series! In this episode, cancer genetic counselor Connor Linehan and genetic counseling student Edith Atwerebour perform a mock cancer genetic counseling session. Edith plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose tumor showed loss of the MSH2 and MSH6 proteins. Although this tumor result raises suspicion for Lynch syndrome, it does not confirm that Patricia has an inherited cancer predisposition. Through this simulated session, Connor explains the difference between tumor and germline testing, reviews the pattern of cancer in Patricia’s family, and discusses how genetic testing could inform her future medical care and clarify cancer risks for her relatives. Patricia is particularly concerned about her kids. The session demonstrates how genetic counselors address the emotional impact of a possible hereditary cancer condition while explaining why testing and cancer screening are generally not recommended for children when the associated risks begin in adulthood. Previous installments of this series have explored prenatal, pediatric, cardiovascular, cancer, and teratogen genetic counseling. We hope these sessions help prospective and current genetic counseling students, and the general public, better understand what happens during a genetic counseling appointment. The Actors Connor Linehan, MS, LCGC is a board-certified genetic counselor in Connecticut specializing in cancer. He helps patients and families understand inherited cancer risks, genetic testing options, and how test results may affect medical management and relatives. He is also a Clinical Instructor at a genetic counseling graduate program. Connor is the President of The Connecticut Genetic Counselor Association. (Fun fact, our host Kira Dineen designed this new website!)  Edith Atwerebour, MPH is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Patricia, a 42-year-old woman recently diagnosed with Stage I colon cancer whose abnormal tumor testing raises concern for Lynch syndrome. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Edith also appeared in the previous installment of this series, #406 Mock Teratogen Genetic Counseling Session: Ozempic, Zoloft, Xanax, and Metformin, in which she played Denise, a pregnant patient seeking information about several medication exposures. Mock Session Overview Establishing the purpose and structure of a cancer genetic counseling appointment Reviewing Patricia’s colon cancer diagnosis, treatment, and current health Addressing Patricia’s concerns about her children early in the session Constructing and evaluating a three-generation cancer family history Identifying features that raise concern for hereditary cancer, including colon cancer before age 50 and multiple Lynch-associated cancers Explaining how genes normally help protect the body from developing cancer Sporadic, familial, and hereditary explanations for cancer The function of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 How immunohistochemistry evaluates mismatch repair protein expression in a tumor Why loss of MSH2 and MSH6 raises concern for mutations (pathogenic variants) in cancer genes The difference between tumor testing and germline genetic testing Why abnormal tumor testing does not independently establish a Lynch syndrome diagnosis How genetic changes confined to a tumor differ from inherited germline variants Why Patricia is the most informative person in her family to test first The option of using a multigene hereditary cancer panel Possible genetic testing results: positive, negative, and a variant of uncertain significance What each po

This episode drop from the PRETEND podcast series “The Gypsy Rose Obsession” features Kira Dineen explaining what Gypsy Rose Blanchard’s genetic test result may, and may not, mean. Gypsy Rose Blanchard’s medical history has been scrutinized for years. Throughout her childhood, her mother, Dee Dee Blanchard, presented her as having numerous serious medical conditions, resulting in medications, procedures, mobility aids, and countless medical appointments. In 2015, Dee Dee was murdered by Gypsy’s then-boyfriend in a crime Gypsy helped plan. The case has since inspired documentaries, television series, podcasts, and an enormous amount of online speculation. But one part of Gypsy’s medical history has received relatively little attention: a chromosomal microdeletion identified through genetic testing. In this special episode drop, we are sharing the fifth installment of “The Gypsy Rose Obsession,” an investigative series from the PRETEND podcast hosted by Javier Leiva. The first four episodes explore the online community that continues to investigate, debate, and develop competing theories about nearly every aspect of Gypsy’s life. We recommend listening to those episodes first for the full context behind the people, records, and claims discussed in this installment. Episode five turns its attention to Gypsy’s reported 1q21.1 microdeletion. DNA Today host and certified genetic counselor Kira Dineen joins Javier as a genetics expert to examine the available records and explain the complexities of interpreting this finding. Kira breaks down chromosomes using a genomic-library analogy, explains how a chromosomal “address” such as 1q21.1 is read, and puts the reported deletion size into perspective. She also compares a traditional karyotype with a chromosomal microarray and explains how a deletion can be too small to detect through one form of testing but identifiable through another. What can the microdeletion tell us about Gypsy’s health? Why might her earlier clinical notes and a later laboratory report describe the finding differently? Could the deletion explain claims involving paralysis, leukemia, or the need for a feeding tube? Most importantly, how do we distinguish a possible genetic association from evidence that a particular finding caused someone’s medical, psychiatric, or behavioral features? This episode discusses medical child abuse, violence, and murder. Please take care while listening. Episode Discussion Topics What genetic counselors do and how they help patients understand genetic testing Chromosomes, genes, and microdeletions explained through a genomic-library analogy How to interpret the chromosomal address “1q21.1” What it means to have a piece of chromosome 1 missing Putting the size of the deletion into perspective Why the size of a genetic change does not always predict its medical impact The wide spectrum associated with 1q21.1 microdeletions, ranging from no apparent features to developmental and congenital differences How two people with the same or similar deletion can be affected very differently Why identifying the deletion does not mean someone will develop every associated condition Possible developmental, neurological, physical, and behavioral features reported with 1q21.1 microdeletions The difference between a genetic risk factor and a diagnosis or prediction Whether paralysis, leukemia, or feeding-tube use are associated with this deletion Why a genetic finding should not automatically be used to explain every aspect of someone’s medical or behavioral history The limitations of interpreting genetic information without a complete medical evaluation and family history The information presented in this episode is intended for education and discussion and should not be considered individualized medical advice. Genetic test results should be interpreted by a qualified healthcare professional in the context of the individual’s complete medical and family history. Resources & Links Li

What happens when stigma, secrecy, and institutional power separate a mother from her child, and prevent an adoptee from accessing his own identity and medical history for decades? This week, we are sharing an episode of DNA Clarity and Support, the newest podcast to join the Gene Pool Media network. Host and genetic counselor Brianne Kirkpatrick Williams speaks with New York Times bestselling author and journalist Gabrielle Glaser about her book, American Baby: A Mother, a Child, and the Shadow History of Adoption. American Baby follows Margaret Erle Katz, who became pregnant as a teenager in 1961, and the son she was pressured to relinquish for adoption. That child, later named David Rosenberg, grew up without access to his biological family or family medical history. Decades later, while experiencing serious health problems, David used direct-to-consumer DNA testing to identify his birth family and discovered that the story he had believed about his adoption was not true. Through David and Margaret’s experiences, Gabrielle exposes the coercion, secrecy, and stigma that shaped the postwar adoption industry, and explores why access to original birth records, genetic relatives, and family health history remains so important. On This Episode, We Discuss: How Gabrielle met David while reporting on his kidney transplant How DNA testing connected David with his biological family What David discovered about his birth parents’ efforts to keep him How sealed adoption records restrict access to identity and family medical history Stigma, coercion, and secrecy in postwar American adoption Unethical research conducted on infants awaiting adoption The emotional complexity of unexpected biological connections and family reunions Privacy concerns surrounding commercial DNA databases Support resources for adoptees and others navigating DNA discoveries Margaret’s journey from decades of secrecy to adoptee-rights advocacy About Gabrielle Glaser Gabrielle Glaser is a New York Times bestselling author and journalist whose work on mental health, medicine, addiction, and culture has appeared in The New York Times Magazine, The New York Times, and many other publications. Her fourth book, American Baby: A Mother, a Child, and the Shadow History of Adoption, examines the history of adoption in post–World War II America through the story of one family separated by the country’s secretive and coercive adoption system. Learn more about Gabrielle and her work on her website. About Brianne Kirkpatrick Williams Brianne Kirkpatrick Williams is a licensed and certified genetic counselor, genealogist, author, and the founder of Watershed DNA. She provides support and guidance for people navigating DNA testing, family searches, adoption, donor conception, misattributed parentage, and unexpected biological relationships. Brianne is also the co-author, with Shannon Combs-Bennett, of The DNA Guide for Adoptees.  About DNA Clarity and Support DNA Clarity and Support explores the personal and familial impacts of DNA testing. Brianne speaks with authors, advocates, and leaders about family searches, unexpected discoveries, identity, medical history, and the resources available to people navigating the rapidly changing world of consumer DNA testing. DNA Clarity and Support is produced by Watershed DNA and is part of the Gene Pool Media podcast network. Subscribe wherever you listen to podcasts. Resources Gabrielle Glaser American Baby by Gabrielle Glaser  The DNA Guide for Adoptees by Brianne Kirkpatrick Williams and Shannon Combs-Bennett Watershed DNA Adoptee Rights Law Center Liberty Lost Podcast DNA Clarity and Support Podcast Current map of adoptee access to original birth certificates Editor’s note: This conversation was originally recorded in 2022. Laws governing adoptee access to original birth certificates have continued to change since then.  As of July 2026, according to the Adoptee Rights Law Center, adult adopted people in seventeen stat

Hypophosphatasia (HPP) can present very differently from one person to the next, from life-threatening complications in infancy to fractures, chronic pain, muscle weakness, or early tooth loss later in life. With symptoms spanning multiple body systems and varying across the lifespan, how can clinicians recognize when these seemingly disconnected findings may point to HPP? In the first episode of our three-part series on hypophosphatasia, we are joined by genetic counselor Amy Patterson to explore the clinical spectrum and diagnosis of HPP. Amy explains what happens biologically in HPP, why traditional age-based classifications do not always capture its variability, and how the condition may present from the prenatal period through adulthood. We also discuss the importance of persistently low alkaline phosphatase (ALP), including why results must be interpreted using age- and sex-appropriate reference ranges. Amy reviews the additional laboratory findings, medical and dental histories, imaging, physical examination, and molecular testing that may contribute to a diagnosis. She also highlights common misdiagnoses and the clinical clues that should prompt healthcare providers to consider HPP. Episode Discussion Topics What hypophosphatasia is and how impaired mineralization affects the body The perinatal, infantile, childhood, adult, and odonto forms of HPP Prenatal and infantile presentations of severe HPP Clinical and dental signs in children Fractures, chronic pain, fatigue, weakness, and dental concerns in adults How manifestations may change throughout a person’s lifetime Variability among relatives with the same familial ALPL variants Common diagnostic delays and misdiagnoses Distinguishing HPP from other causes of rickets and skeletal abnormalities Differentiating HPP from osteoporosis, osteopenia, osteoarthritis, and fibromyalgia The importance of persistently low ALP and appropriate reference ranges Alternative explanations for a low ALP result The HPP International Working Group The roles of laboratory testing, radiographs, dental records, and medical history When molecular testing of the ALPL gene may be appropriate Whether HPP can be diagnosed without an identified pathogenic or likely pathogenic ALPL variant About the Guest Amy Patterson, MS, CGC, is a licensed, board-certified genetic counselor in the Department of Genetic Medicine at Johns Hopkins. She works with pediatric and adult patients in the general genetics clinic and the Greenberg Center for Skeletal Dysplasias, including individuals and families affected by hypophosphatasia. About the Series This episode is the first in a three-part educational series about hypophosphatasia. Stay tuned for the next installment . Across the series, we explore the clinical spectrum and diagnosis of HPP, its genetic basis and variable expression, and considerations for genetic counseling and management. This series is sponsored by Alexion. The views expressed by the host and guests are their own. Resources   Dahir KM, Nunes ME. Hypophosphatasia. GeneReviews®. Updated March 27, 2025. This comprehensive clinical overview covers the presentation, diagnosis, genetics, management, and genetic counseling considerations for HPP. Beck NM, Sagaser KG, Lawson CS, et al. Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening. Molecular Genetics & Genomic Medicine. 2023;11(1):e2056. Khan AA, Brandi ML, Rush ET, et al. Hypophosphatasia diagnosis: Current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis International. 2024;35(3):431–438. Rush E, Brandi ML, Khan A, et al. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: Results from the HPP International Working Group. Osteoporosis International. 2024;35(1):1–10. Brandi ML, Khan AA, Rush ET, et al. The chal

What happens when the symptoms of a genetic condition look like the lasting effects of a professional football career? Former NFL defensive end and Kansas City Chiefs star Art Still spent decades attributing carpal tunnel syndrome, trigger finger, back problems, joint and tendon injuries, neuropathy, and other health concerns to football, aging, and ordinary wear and tear. Even when he developed atrial fibrillation, Art’s lifelong discipline and athlete mentality made him believe he could manage his health on his own. Art and his wife, Liz Still, join host Kira Dineen to share how those seemingly disconnected symptoms were eventually traced to hereditary transthyretin amyloidosis, also known as hereditary ATTR or hATTR amyloidosis. During evaluations through the NFL Player Care Foundation wellness program, Art’s healthcare providers looked beyond his individual symptoms and asked about his family health history. That conversation revealed a striking pattern: relatives with serious cardiac, neurologic, and mobility-related conditions, including Art’s older brother, who received a heart transplant, and his nephew, who lived with sickle cell disease and had previously tested positive for the same TTR variant. Genetic testing confirmed that Art carries the V122I variant, also called p.Val142Ile or V142I, in the TTR gene. This variant is found in approximately 3–4% of Black Americans, or about 1 in 25, although carrying it does not necessarily mean someone will develop amyloidosis. For Art and Liz, the diagnosis provided answers, but it also raised questions for their 11 children, 28th grandchild on the way, and extended family. They discuss navigating family conversations about inherited health risks, the value of genetic testing, Art’s evolving trust in healthcare, and why following a treatment plan matters. Through their nonprofit, Still 4 Life, Art and Liz now offer free community presentations focused on awareness, earlier detection, family health history, and self-advocacy. Their goal is to make complicated medical information easier to understand and reach people who may otherwise dismiss their symptoms or hesitate to seek care. Episode Discussion Topics How Art’s “no pain, no gain” athlete mentality shaped his response to symptoms Why professional athletes may normalize pain and avoid disclosing injuries The symptoms Art initially attributed to football, including carpal tunnel syndrome, trigger finger, back problems, neuropathy, joint and tendon injuries, and a torn biceps Why a torn biceps can be a potential warning sign of transthyretin amyloidosis Liz’s early belief that Art’s symptoms were natural consequences of his football career When Art’s cardiac symptoms caused Liz to realize something else might be happening Art’s history of atrial fibrillation and his initial resistance to medication His evaluations through the NFL Player Care Foundation wellness program The family health history questions that helped connect Art’s seemingly unrelated symptoms His brother’s heart transplant His nephew’s sickle cell disease, amyloidosis, and earlier genetic test result Why Art’s nephew was originally evaluated for Marfan syndrome How genetic testing identified Art’s V122I TTR variant The relief of finally understanding the cause of Art’s health problems How the diagnosis changed conversations with their 11 children and extended family Why family health history may be one of the most valuable legacies a family can preserve The difference between carrying a genetic variant and developing symptoms Why ancestry can help identify risk but should not be used to exclude someone from consideration Art’s mistrust of the medical and pharmaceutical industries, and how his perspective evolved What happened when Art reduced and stopped his heart medication without medical guidance Why finding a healthcare team that explains the purpose of treatment is so important How Liz advocated for Art when she realized he was not followin

This is our seventh installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor and teratogen information specialist Sharon Voyer Lavigne and student Edith Atwerebour perform a mock genetic counseling session. The session indication is medication exposures during pregnancy, including Ozempic®, metformin, Zoloft®, and Xanax®. This session was recorded in person, providing a more dynamic and engaging learning experience. Therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process.  The Actors: Edith Atwerebour is currently a student in the Human Genetics Program at Sarah Lawrence College training to become a genetic counselor. In this mock session, she plays Denise, a 34-year-old woman who is pregnant with her second child and seeking information about medication exposures during pregnancy. The premise of this mock case was developed as part of Atwerebour’s internship with DNA Today. Sharon Voyer Lavigne, MS, LGC, is a licensed genetic counselor, teratogen information specialist, and Coordinator of MotherToBaby Connecticut. She has worked with MotherToBaby Connecticut for more than 28 years and also serves as its Research Coordinator. Lavigne is a Clinical Instructor in the Division of Human Genetics within the Department of Genetics and Genome Sciences at UConn Health. She teaches and trains genetic counseling students, maternal-fetal medicine fellows, OB/GYN residents, and other healthcare professionals. Lavigne received her Bachelor of Science in Biology from Northeastern University and her Master of Science in Human Genetics/Genetic Counseling from Sarah Lawrence College. Through MotherToBaby, she helps patients and healthcare professionals understand the most current evidence about medications and other exposures during pregnancy and breastfeeding. Mock Session Overview: How genetic counselors establish the approximately 3% background risk for birth defects before discussing specific exposures Why the timing, dose, frequency, and duration of a medication exposure matter What is currently known, and still unknown, about semaglutide (Ozempic®/Wegovy®) exposure during early pregnancy Why controlling type 2 diabetes may be more important than the medication exposure itself The role of metformin, insulin, maternal-fetal medicine specialists, and diabetes educators during pregnancy What research suggests about sertraline (Zoloft®) use and the risk for structural birth defects How untreated anxiety and depression can also affect maternal and pregnancy health Possible newborn adaptation symptoms following exposure to certain psychiatric medications Why patients should consult their healthcare providers before reducing or discontinuing medication How therapy, family support, and postpartum planning can complement medication management The role of anatomy ultrasounds and fetal echocardiograms in pregnancy monitoring How MotherToBaby helps patients and healthcare providers navigate exposures during pregnancy and breastfeeding The central takeaway from the session is that Denise’s reported medication exposures are not expected to place the pregnancy at a significantly greater overall risk. Instead, the primary priorities are improving diabetes control, maintaining her mental health, and coordinating care among her obstetrician and other healthcare providers. MotherToBaby Resources: MotherToBaby provides free, evidence-based information about medications and other exposures during pregnancy and breastfeeding. Patients and healthcare providers can contact MotherToBaby by phone, text, email, or live chat. MotherToBaby Pregnancy and Breastfeeding Fact Sheets MotherToBaby: Semaglutide (GLP-1s like Ozempic®, Wegovy®, Rybelsus®) MotherToBaby: Metformin (Glucophage®, Glumetza® and Fortamet®)  M

The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month.

News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored.

Search Links edit widget html Tweets Did you know the tumor suppressor #gene, #TP53 is seen in about 50% of #cancers? Did you know it's estimated that 30% of all existing global data is #healthcare related? #bigdata What does role does #genetics play in stress and #heartconditions? I explore the research published: https://t.co/ze3H6LBvHf Biology + computers = #bioinformations. Check out what the field consist of in this podcast episode: https://t.co/983UwN8539 Live NOW > http://t.co/8cwVrcvMQs How many gene #genes are associated with #height? Find out on this #podcast episode: http://t.co/xLU3uoVjYu #TBT 1 year ago > The Grand Opening of @jacksonlab for #Genomic Medicine. My show review of the initial conference: http://t.co/xWKu596ibZ What is the effects of #caffeine on #embryos? I explore on this episode of #DNA today? http://t.co/nlhBXEjNRU Older Follow @DNApodcast post new entry #6 JACKSON LABORATORIES FOR GENOMIC MEDICINE OPENING 10/13/14 DateMONDAY, OCTOBER 13, 2014 AT 01:44PM modify remove organize post follow up The Grand Opening of Jackson Laboratory in Farmington, CT was this past Wednesday, October 8th. In this episode I discuss the presentations and the facility itself from the conference (check out upcoming conferences). The hot areas in genomic medicines mentioned at the symposium are explored such as prenatal and newborn genome sequences as well as ultra-rare genetic diseases. A quick news story on further findings of the breast cancer associated gene, BRCA2 is shared in honor of October being national breast cancer awareness month. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagJACKSON LABORTARIES IN CategoryFULL EPISODE, CategoryWHUS #5 NEW METHOD OF DNA ANALYSIS 10/6/14 DateMONDAY, OCTOBER 6, 2014 AT 02:26PM modify remove organize post follow up News stories are reported on about malaria, genetics role in stress and heart conditions, and a new method of identifying and analyzing DNA. Lessons explore Huntington's Disease and genetic testing of Huntington's. Woody Guthrie, a famous American singer-songwriter and folk musician, died from Huntington's. The field of bioinformatics is also explored. Play Episode AuthorECHO STUDIO | CommentPOST A COMMENT | Share ArticleSHARE ARTICLE TAGGED TagHUNTINGTON’S DISEASE IN CategoryFULL EPISODE, CategoryWHUS #4 SCHIZOPHRENIA, 8 DISORDERS 9/29/14 DateMONDAY, SEPTEMBER 29, 2014 AT 03:33PM modify remove organize post follow up Dr. John Malone, a professor at UCONN in the Department of Molecular and Cell Biology, presented his research for students which I recap. I plug the grand opening of Jackson Laboratories in Farmington, CT, Jackson Laboratory for Genomic Medicine on October, 8th 2014. Major news story is the new research that Schizophrenia has been revealed to be 8 genetically distinct disorders. Background information on Gregor Mendel is shared. The genetic disorder of the week is Cystic Fibrosis which is explained on the show.

Researchers may have found a gene that has the power to slow the aging process by targeting specific genes. A method to keep stem cells in their pluripotent state for longer was also discovered. Scientists have claim to idenitify the gene that causes Emery-Dreifuss muscular dystrophy which is an incurable muscle-wasting disease. Feature genetists of the week are the duo James Watson and Francis Crick. Genetic disorder of the week is Down Syndrome.

A new inherited neuromuscular disorder has been discovered. Rosalind Franklin's contribution to the discovery of the structure of DNA is explored, her role may be bigger than you think. A lesson of personalized medicine is taught covering the basics of the concept.

News stories are covered with the most major being the announcement of Google Baseline, a projected aimmed to understand the genetics behind a healthy person. The first International Genetic Genealogy Conference took place August 15-17. A mutated gene has been discovered that allows humans to survive at a high altitude.

Genetic testing can change the course of a patient’s care, but accessing the right test is not always straightforward. Behind the scenes, insurance coverage decisions, documentation requirements, prior authorization, denials, appeals, and cost concerns can all influence whether a patient receives timely answers. In this episode of DNA Today, we launch a new special series sponsored by Revvity in this episode exploring the health economics of genetic testing and the real-world systems that shape access to genomic medicine. Host Kira Dineen is joined by Dr. Madhuri Hegde, Senior Vice President and Chief Scientific Officer at Revvity, and Mackenzie Mosera Derby, a pediatric genetic counselor at UW Health. Together, they examine genetic testing access from both the diagnostic laboratory and clinical perspectives exploring why insurance coverage remains so inconsistent, what goes into a prior authorization, why genetic tests are commonly denied, and how clinicians can approach appeals and peer-to-peer reviews. In This Episode, We Discuss The transition from stacked laboratory procedure codes to codes for genes, panels, exomes, and genomes How and why insurance coverage varies among payers and individual health plans Coverage differences across hereditary cancer testing, exome sequencing, genome sequencing, reproductive testing, and population screening How rapid and ultra-rapid genome sequencing may be covered differently from standard genome sequencing The limited coverage available for preventive and population-based genomic testing The coordination required among patients, clinicians, laboratories, and insurance companies Why laboratories offering tests with similar names may differ in technology, interpretation, turnaround time, and clinical support What documentation is typically required for a genetic testing prior authorization How clinicians demonstrate medical necessity and clinical utility Why professional guidelines and peer-reviewed literature can strengthen an authorization request The role laboratories play in benefits investigations, billing assistance, financial support, and prior authorization Why laboratories may perform testing without knowing whether they will ultimately be reimbursed Common reasons insurance companies deny genetic testing Why “this test will not change clinical management” can be an overly narrow interpretation of genetic testing’s value How genetic results may inform surveillance, reproductive decisions, recurrence risks, family members, research eligibility, and patient support The role of hospital test utilization committees Why genetic counselors and geneticists should be represented on utilization review teams How letters of medical necessity (LOMN) and peer-to-peer reviews may support an appeal Why genetic counselors may be prevented from conducting peer-to-peer reviews, even when they were the ordering provider The time clinicians spend educating insurance representatives about genetics Why payer policies frequently lag behind genomic technology and professional recommendations The importance of detailed clinical documentation and accurate diagnostic coding The difference between prior authorization, insurance coverage, and guaranteed payment How self-pay pricing and misleading “no-cost” language can create confusion The potential devaluation of genetic testing and genetic counseling services through complementary or low cost self-pay options  Why improving access requires collaboration among patients, clinicians, laboratories, professional organizations, healthcare systems, and payers About The Guests  Madhuri Hegde, PhD, FACMG, is the Senior Vice President and Chief Scientific Officer at Revvity, where she leads the company’s scientific strategy and oversees Revvity Omics’ global network of laboratories. Dr. Hegde is a medical geneticist and an American Board of Medical Genetics and Genomics-certified diplomate in clinical molecular genetics. Her work focuses on advancing

What happens when someone known for strength, stature, and intimidating roles faces a diagnosis most people do not associate with men?   Tyler Mane is known for playing Sabretooth in X-Men and Deadpool & Wolverine, Michael Myers in Halloween, and Ajax in Troy. Before his acting career, Tyler spent more than a decade wrestling professionally around the world, including appearances with WCW and UWF as Big Sky and Nitron. Recently, Tyler has taken on a very different role: raising awareness about male breast cancer.   Tyler joins host Kira Dineen to share his experience of discovering a breast lump, initially believing it was a lipoma, having his concerns dismissed, and ultimately receiving a breast cancer diagnosis. He opens up about his first instinct to keep the diagnosis private, the embarrassment he initially felt, and what motivated him to speak publicly. Episode Discussion Topics The breast lump that led Tyler to seek medical care Why Tyler and his wife, Renae, initially believed the lump was a lipoma Having his concerns dismissed and continuing to pursue answers Tyler’s first reaction to his breast cancer diagnosis The embarrassment and stigma surrounding male breast cancer Why he ultimately decided to share his story publicly Symptoms and physical changes men should pay attention to How masculinity and “toughing it out” can delay medical care The importance of self-advocacy and early detection How cancer treatment differs from the physical demands of wrestling Redefining strength during illness and recovery Genetic counseling and germline genetic testing after a male breast cancer diagnosis The implications of Tyler’s BRCA2+ genetic testing results for treatment and relatives including his adult children  How Tyler’s public image affects the response to his diagnosis Tyler and Renae’s upcoming podcast, MANE AF   Resources & Links Tyler Mane’s Breast Cancer Announcement Instagram Video @TheRealTylerMane @ManeAFpod NCCN Patient Resources for Breast Cancer NCCN patient resources are based on the same treatment information your doctors use and help you talk to your doctor about the best treatment options for your disease. National Cancer Institute: Breast Cancer in Men The National Cancer Institute provides an overview of male breast cancer symptoms, diagnosis, treatment, genetic testing, and questions patients may want to discuss with their healthcare teams. The NCI notes that inherited variants in BRCA1, BRCA2, and other genes may influence treatment and have implications for relatives. Facing Our Risk of Cancer Empowered (FORCE) FORCE provides education, peer support, advocacy, research updates, and resources for people and families affected by inherited cancer risk, including BRCA1, BRCA2, PALB2, ATM, CHEK2, and other genes. Find a Genetic Counselor The National Society of Genetic Counselors’ (NSGC) directory can help patients locate a genetic counselor specializing in cancer genetics, either locally or through telehealth. Cancer Genetic Testing Genetic testing panels vary with how many genes are included. Healthcare providers can order just one gene or around a hundred, and everything in between. Tyler mentioned his possibly including 85, which is plausible.    Relevant DNA Today Podcast Episode #360 Hereditary Breast Cancer on the Big Screen with Love, Danielle Actress and filmmaker Devin Sidell and hereditary cancer advocate Amy Byer Shainman discuss the film Love, Danielle, Devin’s experience with a BRCA1 pathogenic variant, hereditary breast cancer, preventive surgery, family communication, and using storytelling to increase awareness. #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel This episode explores hereditary breast cancer testing, the genes included on breast cancer panels, and how researchers evaluate which genes have sufficient evidence to guide clinical care. #159 Black Cancer Genes on Breast Cancer Attorney and BRCA advocate Erika Stallings and ge

Preparing for the genetic counseling board exam can feel overwhelming. Between the extensive study materials, challenging practice questions, and uncertainty about what to expect on exam day, candidates often struggle to determine where to begin and how to use their preparation time effectively. In this episode of DNA Today, host Kira Dineen is joined by Melanie Hardy and Amy Shikany to explore the new and updated resources available to candidates preparing for the American Board of Genetic Counseling (ABGC) Certification Examination. Melanie Hardy is the 2026 President of ABGC, and Amy Shikany is ABGC President-Elect and a past Chair of the Certification and Education Committee. Together, they discuss ABGC’s Certify webpage, the new CGC self-study guide, the approved references list, a new student webinar, and the updated practice examination that launched on June 15, 2026. They also take listeners behind the scenes of how the certification exam is developed, reviewed, and maintained.   Discussion Topics: What the ABGC Certification Examination is designed to assess Where candidates should begin when navigating ABGC’s certification and exam resources How to use the exam content outline when developing a study plan Why ABGC created its new CGC self-study guide How candidates can use the self-study guide alongside the approved references What candidates can expect from ABGC’s new student webinar How questions for the certification exam are written and reviewed What makes a strong “one best answer” board-exam question How ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerations What has changed in the updated ABGC practice examination How closely the practice exam reflects the structure and reasoning required on the certification exam How candidates should interpret their practice-exam results How the passing standard for the certification exam is determined Preparation steps candidates should take before exam day Encouragement and next steps for candidates who do not pass on their first attempt How certified genetic counselors can contribute to the development and maintenance of the examination One clarification from the conversation: candidates are provided access to a simple calculator during the certification exam.   About the Guests Melanie Hardy, MS, CGC is the 2026 President of the American Board of Genetic Counseling. Through her leadership with ABGC, she supports the organization’s work to establish and maintain certification standards for the genetic counseling profession and provide resources for current and future certified genetic counselors.   Amy Shikany, MS, CGC is President-Elect of the American Board of Genetic Counseling and a past Chair of ABGC’s Certification and Education Committee. Her work with ABGC has included supporting the development, review, and ongoing maintenance of the genetic counseling certification examination.   Resources Mentioned American Board of Genetic Counseling (ABGC) website Introducing the New CGC® Logo & Digital Badge ABGC Certify  Eligibility Requirements Certification Process, Exam and Fees Need-Based Certification Scholarship ABGC CGC Exam Resources Candidate Guide (Start here) Exam Content Outline Self Study Guide  Syndromes and Disorders List on Pages 19 and 20 Practice Exam Examination References  Exam Performance Taskforce Report Student Webinar (Coming Soon) Relevant DNA Today Episodes: #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors — Monica Marvin, Dr. Claire Davis, and Heather Rich explain ABGC’s new Continuing Competence Learning Scenarios, how the requirement fits into recertification, and what certified genetic counselors need to know. #295 Genetic Counseling Board Exam Updates with ABGC — ABGC President Angela Trepanier and Executive Director Heather Rich provide an inside look at the certification exam, including exam development, scoring,

What happens when DNA from a decades-old crime scene meets a family tree created generations later? That combination helped investigators identify the Golden State Killer and transformed how law enforcement approaches some of the country’s most difficult cold cases. Content warning: This episode includes discussions of murder, sexual assault, suicide, and other sensitive topics. In this episode of DNA Today, host Kira Dineen speaks with Paul Holes, a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, Paul worked on some of the most infamous cases in American criminal history, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the investigation that ultimately identified Joseph DeAngelo as the Golden State Killer. Paul is also the author of Unmasked: My Life Solving America’s Cold Cases, co-host of the podcast Small Town Dicks, and one of the investigators featured in the television special Celebrity Crime Scene: Marilyn Monroe, available on Hulu. We explore the science, strategy, and ethical complexity behind cold-case investigations. Paul shares how investigators determine whether decades-old evidence still holds value, what kind of DNA evidence would be needed to scientifically resolve the Zodiac case, and why older biological samples create difficult decisions about whether to test now or preserve evidence for future technologies. The episode also dives into the landmark investigation that identified the Golden State Killer. Paul walks through how traditional forensic DNA databases failed to produce a match, why investigative genetic genealogy changed the direction of the case, and how distant relatives’ DNA helped investigators build family trees that eventually led to Joseph DeAngelo. Later in the episode, Paul discusses his latest project, Celebrity Crime Scene: Marilyn Monroe, and how modern virtual reconstruction can be used to reexamine a historic death scene more than six decades later. Episode Discussion Topics Cold-case investigations and how evidence is reexamined decades later How investigators decide which biological samples may still have forensic value The Zodiac Killer case and what would be needed to consider it scientifically solved The challenges of DNA evidence from stamps, envelopes, letters, and other handled items Why finite evidence creates difficult decisions about testing now versus waiting for future technology The role of DNA in linking the Golden State Killer crimes before a suspect was identified Why traditional forensic DNA databases did not solve the case How investigative genetic genealogy helped generate a new lead How distant relatives’ DNA can help identify someone who never uploaded their own DNA The scientific and investigative process behind building genealogical trees from crime-scene DNA How investigators narrowed family branches until Joseph DeAngelo became a viable suspect Reconstructing Marilyn Monroe’s final hours using virtual crime-scene technology What records, photographs, reports, and witness statements can reveal in historical case reviews About Paul Holes Paul Holes is a retired cold-case investigator, New York Times bestselling author, podcaster, and television host. During his 27-year career with the Contra Costa County Sheriff’s and District Attorney’s Offices, he investigated some of the country’s most complex and high-profile cases, including the Zodiac murders, the kidnapping of Jaycee Dugard, and the Golden State Killer case. Paul’s work helped bring national attention to the power of investigative genetic genealogy, particularly through the identification of Joseph DeAngelo as the Golden State Killer. He is the author of Unmasked: My Life Solving America’s Cold Cases, co-host of Small Town Dicks, and appears in Celebrity Crime Scene: Marilyn Monroe. Resources Unmasked: My Life Solving America

Just a few years ago, there were no pharmacological treatments for patients with achondroplasia. Today, with multiple therapies on the market, the conversation has shifted from if we can treat to how we treat safely, consistently, and thoughtfully.  In this third and final installment of our achondroplasia series, sponsored by BioMarin, we explore the recently published international consensus guidelines for vosoritide. These guidelines provide a roadmap for the entire treatment lifecycle, from the initial diagnosis and counseling to initiation, monitoring, and eventually, the transition off therapy.  You can review the prescribing information for vosoritide here with additional safety information, including about the risk of low blood pressure.   Joining us in-person all the way from Australia is the lead author of these guidelines, Dr. Ravi Savarirayan. Dr. Savarirayan is a global leader in skeletal dysplasia and has been a driving force in the clinical development of vosoritide from its earliest stages.    Topics Discuss:    The Journey of Vosoritide: Dr. Savarirayan shares his personal "why", from the early research phases to the clinical trials that changed the landscape of skeletal dysplasia care.    Precision Medicine at the Molecular Level: How vosoritide acts as the first precision medicine approved for achondroplasia by targeting and counteracting overactive FGFR3 signaling, along with important safety information such as a risk for low blood pressure    The International Guidelines: Why a global consensus was necessary and how it addresses gaps in real-world clinical practice.    The Treatment Lifecycle:    Counseling: Setting expectations and having the first conversation with families.  Initiation: Practical tips for daily subcutaneous injections and establishing a routine.  Safety & Monitoring: How clinicians monitor growth and manage safety considerations like hypotension across different age groups.  Discontinuation: How to navigate growth plate closure and the transition off therapy.  The Future of Care: How these guidelines will evolve as we gather more long-term, real-world data.    Our Guest Dr. Ravi Savarirayan:    Ravi Savarirayan is consultant clinical geneticist at Victorian Clinical Genetics Services, Professorial fellow at the University of Melbourne, and Group leader (Molecular Therapies at Murdoch Children’s Research Institute, Victoria, Australia.    Professor Savarirayan received his MBBS from the University of Adelaide, Australia in 1990 and became a Fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in Clinical Genetics by the Human Genetics Society of Australasia in 1998 and was awarded his Doctor of Medicine from the University of Melbourne in 2004. He was awarded the Fulbright Professional Scholarship for Australia in 1998, and took this up at University of California, Los Angeles (UCLA).    Professor Savarirayan’s primary research focus is on inherited disorders of the skeleton causing short stature, arthritis, and osteoporosis. He has published over 230 peer-reviewed articles and received over $35M in research funding, collaborating with researchers from 40 countries.     His current clinical trial activities are pioneering disruptive new therapies for the treatment of genetic disorders. He was the global lead investigator of the clinical development program that identified vosoritide as the first precision therapy for children with achondroplasia. He was recently named one of the 30 “Brilliant minds” of the Murdoch Children’s Research Institute over the past 30 years, was awarded the Institute’s research excellence award in 2020, and is an NHMRC Leadership Fellow.    Summary:   We talk about the journey to vosoritide, Dr. Ravi’s personal history with achondroplasia research, published treatment guidelines and how vosoritide is approved under accelerated approval to increase linear growth in pediatric patients with achond

Four hundred episodes. Nearly fourteen years of conversations. One podcast that began with a high school student, a Rock Band microphone, and a deep curiosity about genetics. For this milestone episode, DNA Today is turning the microphone around. Kira Dineen is joined by Jess Rizzo, a 2026 graduate of the Rutgers University Genetic Counseling Master’s Program, to look back at the evolution of DNA Today, from its earliest episodes in 2012 to becoming a multi-award-winning genetics podcast and the foundation for Gene Pool Media. Kira shares how the original idea for DNA Today came together, where the name came from, and what she remembers about recording those first episodes. She also reflects on the major turning points that shaped the podcast, including its first sponsorship, conversations with prominent leaders in genetics, and interviews that changed how she thinks about both science and storytelling. The conversation explores what makes someone an effective science communicator, what separates a good podcast guest from an unforgettable one, and how DNA Today expanded into Gene Pool Media. Kira also looks ahead to the future of the podcast and considers whether the version of herself who started the show in 2012 could ever have imagined reaching Episode 400. The episode concludes with a rapid-fire round of “DNA Today Superlatives,” featuring Kira’s dream guests, proudest episode production, most surprising topics, most popular episode, and the conversations that have had the greatest personal impact on her. An exciting announcement, since recording we learned we have been ranked number one on Million Podcast’s list of “Best DNA Podcasts in the US”.   Thank you to our audience for sticking with us! Whether you have been listening since 2012, or last week. We appreciate your support in growing DNA Today over the last 14 years.  About Host Kira Dineen Kira Dineen, MS, LCGC, CG(ASCP)CM (she/her) has 15 years of podcast experience fueled by a passion for science communication. She has hosted and/or produced a dozen podcasts, many of which are in her science podcast network: Gene Pool Media. Her flagship show, DNA Today, is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show has won the Best Science and Medicine Podcast Award for three years, among others. Over the last 14 years, DNA Today has produced over 400 episodes with support from over 100 sponsors. She was accepted into The Podcast Academy and previously served on the National Society of Genetic Counselor’s Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science at Sarah Lawrence College and is a practicing licensed certified genetic counselor at a high risk pregnancy center in Connecticut. Kira serves as an adjunct faculty member at Bay Path University teaching Ethics and Reproductive Genetics.  In This Episode, We Discuss How DNA Today began in 2012 The story behind the podcast’s name What the earliest recordings were like How the show has evolved over 400 episodes Major episodes and guests that shaped the direction of the podcast The first DNA Today sponsorship on Episode 100 (shoutout KGI)  What makes a strong science communicator The qualities that make a podcast guest memorable How Gene Pool Media grew out of DNA Today The lessons Kira has learned from interviewing patients, families, researchers, genetic counselors, physicians, advocates, and other experts The future of DNA Today and Gene Pool Media Kira’s favorite, most impactful, and most surprising episodes DNA Today Episodes Referenced #25: Hereditary Cancer Syndromes with Ellen Matloff  #110: Analyzing Gattaca #142 Barbara Fortini on KGI’s Genomic Data Analytics #100: Human Hereditary with Carl Zimmer #211: Gene Patents with

What condition helped spark the creation of newborn screening in the United States? It was Phenylketonuria, or PKU, a rare inherited metabolic disorder that forever changed how we identify and treat genetic conditions from the very start of life. In this in-person episode of DNA Today, we kick off a three-part series on phenylketonuria, better known as PKU, by looking at how one condition became central to a major public health shift. Host Kira Dineen is joined in person by Sarah Chamberlin and Ryan Miller to explore the scientific, clinical, historical, and deeply personal sides of PKU. We explore the history of newborn screening itself, including the work of Dr. Robert Guthrie and the development of the Guthrie card. Sarah brings a remarkable piece of history to the recording: the original stamp used to create early Guthrie cards. Ryan, Sarah, and Kira unpack why PKU remains both a newborn screening success story and an ongoing challenge. From treatment access and medical nutrition coverage to state-by-state differences in newborn screening panels and the promise and complexity of newborn sequencing, this episode shows why PKU is still shaping conversations about genetics, public health, and rare disease care. Thank you to PTC Therapeutics for sponsoring this three-part series on PKU. Our guests are participating in this podcast to share their experience and opinions only. They are not providing any medical advice. Always check with your healthcare provider for treatment and screening advice. Episode Discussion Topics Why PKU helped launch newborn screening in the United States What life was like for individuals with PKU before newborn screening How PKU affects the body on a metabolic level The role of phenylalanine hydroxylase deficiency Why elevated phenylalanine levels can impact brain development Dr. Robert Guthrie’s role in developing newborn screening The history and significance of the Guthrie card Sarah’s experience learning her daughter’s newborn screen was flagged for PKU What confirmatory testing and early treatment looked like for Izzy How newborn screening panels vary across states What the Recommended Uniform Screening Panel, or RUSP, is Gaps in access to medical formula and low-protein medical foods Why insurance coverage remains a major challenge for families The promise and concerns around newborn sequencing How clinicians can better support newly diagnosed families Why connecting families with community early can be life-changing The need for more metabolic geneticists, genetic counselors, and dietitians Guest Bios Sarah Chamberlin is a parent of a child with PKU and a founder and the Chief Program Officer of flok, a patient advocacy organization supporting individuals and families affected by inherited metabolic disorders. Ryan Miller is Senior Director, Field Medical Lead at PTC Therapeutics on the U.S. Medical Affairs Metabolism team, where he supports PKU. He is trained as a genetic counselor. Resources PKU / Phenylketonuria Phenylalanine hydroxylase deficiency ACT Sheet The Newborn Screening Information Center (NBSIC) Recommended Uniform Screening Panel, or RUSP RUSP overview for families ACMG Newborn Screening ACT Sheets and Algorithms flok health Baby’s First Test: Newborn Screening Information National PKU Alliance Guthrie-Kock Scholarships from flok David’s story of learning of an older brother with PKU who was institutionalized Referenced DNA Today Podcast Episode #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida Connect With Us Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 400 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! The video component of this episode is available on our YouTube channel and website. Some of these epis

What if the future of human health doesn’t just begin in the clinic, but in the soil? In this episode of DNA Today, we explore the new documentary Groundswell, the final chapter in the regenerative agriculture documentary trilogy that began with Kiss the Ground and continued with Common Ground. Narrated by Demi Moore and Woody Harrelson, Groundswell follows regenerative agriculture solutions across five continents, showing how restoring soil health can support biodiversity, food systems, local economies, climate resilience, and human health. This episode takes DNA Today into a different but deeply relevant corner of genetics and genomics. While we often focus on human genetics, Groundswell broadens the lens to show how genetics is embedded in entire ecosystems. Soil is alive with microbial diversity. Plants depend on complex relationships with bacteria, fungi, insects, and the environment around them. Crop diversity and seed diversity can influence resilience to drought, pests, disease, and changing climate conditions. Human health is also shaped not only by our DNA, but by the environments we live in, the food we eat, the water we drink, the chemicals we are exposed to, and the microbes we encounter. Joining us are Nikki Reed, co-producer of Groundswell, and Rebecca Harrell Tickell, co-director of the film.  About Nikki Reed Many listeners will know Nikki from her role as Rosalie Hale in The Twilight Saga, as well as her work in Thirteen, which she co-wrote and starred in, and her role in The O.C. Beyond acting, Nikki is also a filmmaker, farmer, entrepreneur, and environmental advocate. About Rebecca Harrell Tickell Rebecca Harrell Tickell is an award-winning filmmaker, producer, and environmental activist whose work includes Kiss the Ground, Common Ground, and now Groundswell. Through this trilogy, Rebecca and her collaborators have helped bring regenerative agriculture into mainstream conversations about climate, food, health, and the future of farming. In This Episode, We Discuss How Nikki Reed’s experience in Twilight shaped the way she thinks about storytelling, cultural influence, and using her platform for impact Why Nikki became involved in regenerative agriculture and how her connection to food, farming, and environmental advocacy became personal What regenerative agriculture means and how it differs from conventional agriculture Why healthy soil is not just “dirt,” but a living ecosystem filled with microbes, fungi, roots, insects, and organic matter How soil health connects to plant health, nutrient cycling, water retention, and ecosystem resilience Why biodiversity matters above and below ground, from soil microbial communities to crops, pollinators, insects, animals, and humans How regenerative agriculture reframes food systems as regionally specific, community-based, and connected to local ecosystems The connection between food, chemical exposures, the environment, and gene-environment interactions Why the guests see regenerative agriculture as both a practical solution and a hopeful movement How storytelling can help make complex topics like soil science, microbes, farming systems, and climate resilience more accessible Fact Check & Context This episode includes a passionate discussion about regenerative agriculture, pesticides, cancer, fertility, carbon, and soil health. As with many topics at the intersection of environment and health, the science is complex. Here are a few important clarifications and sources for our audience members who want to dig deeper. Cancer Rates The episode references concern about rising cancer rates, including pediatric cancer and cancers in younger adults. The most accurate summary is nuanced. For childhood and adolescent cancers in the U.S., a 2025 analysis found that age-standardized cancer incidence increased from 2001 to 2016, then decreased from 2016 to 2022. Cancer death rates among U.S. youth ages 0–19 also declined 24% from 2001 to 2021, according to CDC

Recertification is changing for genetic counselors. The American Board of Genetic Counseling (ABGC) now requires completion of new Continuing Competence Learning Scenarios as part of maintaining the CGC credential. These are not traditional quizzes with one correct answer. Each scenario presents a complex genetic counseling situation, followed by reflective questions, peer rationales, and educational resources designed to support lifelong learning and continuing competence. To help us understand why this change was made and what genetic counselors need to know, we are joined by three guests from ABGC: Monica Marvin and Dr. Claire Davis, co-chairs of ABGC’s Continuing Competence Committee, and Heather Rich, Executive Director at Smithbucklin, who manages ABGC operations. We break down why these Learning Scenarios were created, how the requirement works, what counts toward recertification, and how ABGC is approaching competence in a field where many real-world situations are nuanced, reflective, and shaped by context.   In This Episode, We Discuss: Why ABGC reevaluated the recertification process for certified genetic counselors What was missing from a recertification model based primarily on CEUs or reexamination What Continuing Competence Learning Scenarios are, and what they are not How these scenarios differ from traditional quizzes or tests Why there may be more than one thoughtful way to respond to a complex genetic counseling situation How panelist rationales help Diplomates understand the reasoning of other competent practitioners How the new requirement is being phased in based on recertification cycle What genetic counselors in current recertification cycles need to know about voluntary scenario completion How each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirements How often new Learning Scenarios will be published How scenarios are developed and reviewed by ABGC’s Continuing Competence Committee Why review by the DEIJ Committee is an important part of the process How Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered care Whether future scenarios may expand beyond patient-facing clinical roles to include genetic counselors working as medical science liaisons, variant curators, educators, and other nontraditional roles   The Panel: Monica Marvin, MS, CGC, is the Program Director for the University of Michigan Genetic Counseling Graduate Program and Clinical Professor of Internal Medicine and Human Genetics at the University of Michigan. Monica was the inaugural President of the Michigan Association of Genetic Counselors, the 2011 Chair of the National Society of Genetic Counselors Access and Service Delivery Committee and the 2014 Chair of the National Society of Genetic Counselors Payor Subcommittee. She also served on the Board of Directors for the National Society of Genetic Counselors in 2016 and 2017 and is a current member of the Accreditation Council of Genetic Counselors Program Review Committee. In addition, Monica serves on the Advisory Board for multiple genetic counseling programs, and is the co-chair of the American Board of Genetic Counselors Continuing Competence Committee. She received the 2014 Strategic Leader award from the National Society of Genetic Counselors and was instrumental in the 2018 passage of legislation to license genetic counselors in the state of Michigan. She is passionate about the provision of high-quality genetic counseling services.   Claire Davis, EDD, MS, CGC has contributed to the learning, growth, and development of genetic counselors for 19 years. She received her Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai in 2007. She earned a doctorate in Adult Learning and Leadership from Teachers College, Columbia University, completing a dissertation on how genetic counselors learn to incorporate innovations into their practi

Anxiety is one of the most common mental health conditions, but for many people, it can also feel deeply isolating. Current treatments such as therapy, SSRIs, and benzodiazepines can be life-changing, but they do not work for everyone, and they often manage symptoms rather than addressing the underlying biology of anxiety. In this episode of DNA Today, host Kira Dineen is joined by Dr. Troy Rohn, neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. Dr. Rohn is also the author of Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, a brand new book exploring how CRISPR, RNA interference, neurogenetics, and precision psychiatry could reshape the future of mental health treatment. We take a deeply personal and scientific look at anxiety. Dr. Rohn shares how his own experiences with chronic anxiety and PTSD helped inspire his work, while also explaining the brain biology behind anxiety, including the roles of serotonin, GABA, the amygdala, hippocampus, insula, and thalamus. A major focus of the episode is the 5-HT2A serotonin receptor, produced through the HTR2A gene, and why this receptor has become an important target in Dr. Rohn’s preclinical research. Kira and Dr. Rohn explore how today’s treatments broadly influence serotonin signaling, while emerging gene-based approaches may someday allow researchers to more precisely reduce or silence specific pathways involved in anxiety. The episode also breaks down the difference between CRISPR gene editing and RNA interference, including why reversibility, safety, off-target effects, and long-term consequences matter so much when discussing potential therapies for the brain. Dr. Rohn also explains one of the biggest challenges in the field: getting therapies across the blood-brain barrier. Because this science is still preclinical, the conversation also focuses on how to talk about hope responsibly. Could gene therapy someday help treat anxiety at its source? Possibly. But there are major scientific, regulatory, ethical, and access questions that need to be answered before these approaches could become part of clinical care.   In This Episode, We Discuss: The lived experience of anxiety, PTSD, and chronic hypervigilance Why anxiety is shaped by both genes and environment How current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animals Why SSRIs can help some people but fall short for others The role of serotonin, GABA, and brain circuits in anxiety What the 5-HT2A receptor is and why it matters How the HTR2A gene leads to production of the 5-HT2A receptor protein The difference between broadly changing serotonin levels and targeting a specific receptor pathway How CRISPR could be used to make more permanent DNA changes How RNA interference could offer a more temporary or reversible way to reduce gene expression What preclinical animal studies can and cannot tell us Why the blood-brain barrier is such a major challenge for brain-targeted therapies Ethical questions around using gene therapy for mental health conditions How to balance scientific excitement with caution and realistic expectations   Guest Bio Dr. Troy Rohn is a neuroscientist, professor at Boise State University, and Co-founder and Director of Preclinical Studies at Cognigenics. His research has focused on neurological disorders, including Alzheimer’s disease, anxiety, and memory impairment. In his book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders, Dr. Rohn explores how gene therapy, CRISPR, RNA interference, and precision psychiatry could open new possibilities for treating anxiety and other brain-based conditions.   About the Book Brain Medicine: Breakthroughs in Gene Therapy for Anxiety & Other Neuropsychiatric Disorders explores the future of mental health treatment through the lens of gene therapy and neuroge

What if we could study melanoma not just cell by cell, but in the exact place those cells live inside the tumor? That is the promise of spatial biology. In this episode of DNA Today, we explore how emerging genomic technologies are transforming melanoma research by allowing scientists to examine not only which cells are present in a tumor, but where they are located, how they interact, and why those relationships matter. May is Melanoma Awareness Month, making this an important time to spotlight how tools like spatial transcriptomics, single-cell sequencing, and multiomics approaches are helping researchers better understand tumor behavior, immune response, and treatment resistance. Joining us are Professors Thomas Tüting and Andreas Braun, German dermatologists and researchers whose work focuses on melanoma, tumor immunology, and translational cancer research. We are also joined by Dr. Jia Hui Khoo, Product Manager at MGI, who brings expertise in spatial biology and the technologies helping make this research possible. Together, we discuss an exciting melanoma research project profiling human melanoma samples from the University Hospital Magdeburg’s biobank, using MGI’s DCSP approach, which spans DNA, cell omics, spatial omics, and proteomics. This work has the potential to deepen our understanding of melanoma biology, tumor heterogeneity, immune landscapes, and the future of precision oncology. In this Episode, We Discuss: How melanoma research and treatment have evolved, especially with the rise of immunology and immunotherapy. Why human melanoma biobanks are so valuable for translational cancer research. How spatial biology helps researchers understand tumors in context, not just as isolated cells. Why the location of cells within a tumor matters for understanding melanoma progression and immune response. How spatial transcriptomics and single-cell sequencing can reveal differences between patients who respond well to immunotherapy and those who do not. What researchers hope to learn by profiling STOmics spatial transcriptomics datasets alongside matched single-cell datasets from human melanoma and mouse models. How MGI’s DNBSEQ and STOmics technologies support oncology research. What MGI’s DCSP approach brings to melanoma research by integrating DNA, cell omics, spatial omics, and proteomics. Why high-resolution spatial technologies like Stereo-seq may be especially important for studying the tumor microenvironment. How multiomics research could eventually inform biomarker discovery, patient stratification, therapeutic development, and the future of human pathology. Guests:  Professor Thomas Tüting, MD is Professor and Chairman of Dermatology at University Hospital Magdeburg in Germany, where his work focuses on tumor immunology, melanoma progression, metastasis, and resistance to cancer immunotherapy. He trained in dermatology at University Hospital Mainz and completed research training in experimental tumor immunology at the University of Pittsburgh. His research has explored how the immune system shapes melanoma biology, including the role of inflammation, tumor plasticity, and the tumor microenvironment in cancer progression and treatment response. In 2024, Professor Tüting was awarded an ERC Synergy Grant with collaborators at Uppsala University to advance immunotherapy research for malignant melanoma and brain tumors, with a focus on the vascular-immune interface and local anti-tumor immune activation.  Professor Andreas D. Braun, MD is a dermatologist and researcher in the Department of Dermatology, Allergology and Venereology at the University Hospital Schlewsig-Holstein in Lübeck. His research centers on melanoma biology, tumor progression, metastatic spread, and mechanisms that influence response or resistance to immunotherapy. Professor Braun has co-authored studies on topics including Hgf-Met and BRAF signaling in melanoma, tumor-intrinsic Toll-like receptor 4 signaling, MHC-I downregulation, CD8

Newborn sequencing is no longer just a future-facing idea discussed in genetics circles. It is beginning to take shape through real pilot programs, state policy, and health system efforts exploring how genomics could fit into routine newborn care. In this episode of DNA Today, we take a closer look at one example of that momentum: Florida’s Sunshine Genetics Act. The legislation created a five-year, voluntary newborn genetic sequencing pilot program and established the Sunshine Genetics Consortium. The program allows parents to opt in to newborn genetic screening, including whole genome sequencing. The state allocated millions for the Sunshine Genetics Pilot Program, along with additional funding for the Florida Institute for Pediatric Rare Diseases. To unpack what this could mean for rare disease diagnosis, pediatric genomic medicine, and the future of newborn screening, our host Kira Dineen is joined by Dr. Pradeep Bhide, Director of the Florida Institute for Pediatric Rare Diseases, and State Representative Adam Anderson, who championed the legislation after losing his son Andrew to Tay-Sachs disease at age 4.  About Our Guests Dr. Pradeep G. Bhide is the Jim and Betty Ann Rodgers Eminent Scholar Chair of Developmental Neuroscience, Director of the Florida Institute for Pediatric Rare Diseases, and Director of the Center for Brain Repair at the Florida State University College of Medicine. His work focuses on developmental neuroscience, pediatric rare disease research, precision diagnostics, and advancing treatments for children and families affected by rare genetic conditions. Representative Adam Anderson represents District 57 in the Florida House of Representatives. He sponsored and championed the Sunshine Genetics Act, drawing from his family’s personal experience with rare disease after the loss of his son Andrew to Tay-Sachs disease. Through this legislation, Representative Anderson has helped position Florida as one of the first states to explore how genomic sequencing could be integrated into newborn screening and pediatric rare disease care.  In This Episode, We Discuss: How Representative Anderson’s son Andrew inspired his advocacy for newborn sequencing and rare disease legislation What the Sunshine Genetics Act makes possible for families in Florida How newborn genome sequencing could shorten or prevent the rare disease diagnostic odyssey The role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the state Why early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trials How Florida’s approach fits into the broader global movement toward newborn sequencing, alongside programs such as Genomics England’s Generation Study, GUARDIAN in New York, BeginNGS at Rady Children’s, and NIH-funded BEACONS What “whole genome sequencing” means in the context of this pilot, and how programs may distinguish between sequencing the whole genome and analyzing a targeted set of genes How families may be educated about voluntary participation and informed consent What types of results may be returned to parents and healthcare practitioners How programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findings The connection between earlier diagnosis and emerging gene-based therapies What it takes to move complex genomic medicine legislation forward How Florida is building infrastructure for pediatric genomic medicine Which outcomes will matter most as the five-year pilot unfolds, including enrollment, sequencing metrics, clinical impact, public health impact, cost effectiveness, and economic benefits, which are included in the reporting requirements for the program.  Why This Conversation Matters For many families affected by rare disease, the search for a diagnosis can take years. Those years can include speci

Despite incredible advances in genetic testing, many patients with suspected rare diseases still spend years searching for answers. In this episode, we explore how whole genome sequencing, paired with emerging multi-omic and multimodal technologies, is helping clinicians move beyond the limits of single-test approaches to deliver clearer, more actionable answers for patients and families. Joining us in person for this conversation are two experts from Baylor Genetics: Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer, and Chris Sands, Chief Growth Officer. You may remember them from Episode 385, where they joined our ACMG recap episode to discuss Baylor Genetics’ announcement around these evolving technologies. In this episode, we discuss the growing momentum behind whole genome sequencing in rare disease diagnosis, why some patients remain undiagnosed even after initial testing, and how layered approaches such as optical genome mapping and long-read sequencing may help close that diagnostic gap. We also talk about how a confirmed diagnosis can affect care management, treatment access, and clinical trial eligibility for patients and families. Topics Covered:  The growing role of whole genome sequencing in rare disease diagnosis How healthcare systems and clinical practices are adopting genome sequencing How whole genome sequencing is changing pediatric patient care Why some patients remain undiagnosed after initial WGS testing The current diagnostic gap in rare disease genetics Efforts underway to improve diagnostic yield What a multimodal and multi-omic approach looks like in practice How optical genome mapping and long-read sequencing complement WGS How labs determine when to layer on additional technologies The real-world impact of a confirmed diagnosis on treatment and trial access About Dr. Christine Eng: Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics. She also serves as Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. About Chris Sands: Chris Sands is the Chief Growth Officer at Baylor Genetics, where he works closely with healthcare systems, providers, and institutions to expand access to advanced genetic testing. He brings a strong strategic and commercial perspective to the evolving role of genome sequencing in clinical care, particularly in supporting adoption of new technologies that can improve the diagnostic journey for rare disease patients. Relevant Resources:  Learn more about Baylor Genetics here Baylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental Technologies Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network   Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections  #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey #385 Insid

What if one of the biggest assumptions in genetics is also one of the most incomplete? We often talk about DNA as though it is a stable blueprint, a fixed set of instructions inherited at conception and carried unchanged throughout life.  But in Beyond Inheritance, science journalist Roxanne Khamsi challenges that idea in a profound way, arguing that our genomes are far more dynamic, unstable, and biologically creative than most of us realize.  In this episode, Roxanne Khamsi dives into the science and implications of mutations that arise after conception, the spontaneous, somatic, and mosaic genetic changes that shape our tissues, immune systems, brains, aging process, and risk for disease.  We talk about how these changes complicate the idea of inherited disease, how cancer can be understood through evolution, why some mutations are harmful while others may actually rescue disease, and what all of this means for the future of medicine.  In This Episode, We Discuss: Why DNA should not be viewed as static What somatic mutations are and why they matter The concept of mosaicism and what it means that every human is a mosaic How Darwinian evolution can happen within the body How mutation supports antibody diversity and immune defense Clonal hematopoiesis and its links to cardiovascular disease and aging Phenocopies and how spontaneous mutations can mimic inherited disease Cases where cells appear to self-correct through additional mutations Whether mutation accumulation may help drive aspects of aging   The Guest: Roxanne Khamsi is an author, speaker, contributing writer for The Atlantic, and award-winning science journalist whose work has appeared in The New York Times, Nature, Scientific American, WIRED, and National Geographic. In Beyond Inheritance, she draws on more than two decades of reporting at the intersection of genetics and medicine to take readers through cancer biology, immune diversity, clonal hematopoiesis, somatic mosaicism, germline mutation, aging, and even microbial evolution, revealing mutation not as an occasional error, but as a constant force shaping life from within. Learn more on her website here.   Genetic Conditions Mentioned: Progeria Werner syndrome  Hyper IgM syndromes Adenosine deaminase severe combined immune deficiency (ADA-SCID) VEXAS syndrome  ​​Paroxysmal nocturnal hemoglobinuria (PNH)  Duchenne muscular dystrophy (DMD) Genetic History Timeline Referenced: 1881 - "Der Kampf der Theile im Organismus" (The Struggle of the Parts in the Organism) is published by Wilhelm Roux and read by Charles Darwin  1916 - Ernest Tyzzer first used the term ‘somatic mutation’ with respect to a tumour 1953 - Rosalind Franklin's Photo 51 led to the discovery of the structure of DNA by James Watson and Francis Crick  1970s - The foundational X-inactivation studies in Paroxysmal Nocturnal Hemoglobinuria (PNH), notably the work by Oni, Osunkoya, and Luzzatto provided crucial evidence that PNH is a clonal disease arising from a somatic mutation in a hematopoietic stem cell 2003 - First draft of the human genome is announced complete.     Relevant Papers: Early somatic mosaicism is a rare cause of long-QT syndrome Variations have been identified in up to 20% of all cases of autism, with a single mutation in a single gene being largely responsible for driving critical neurodevelopmental differences.  The role of somatic mutations in endometriosis: pathogenesis, progression, and fibrogenesis  How Symptoms of Rare Diseases Can Mimic Common Conditions states rare disease patients average two to three misdiagnoses before their accurate diagnosis.  Trisomy rescue    Science Fiction Recommendations - Genetics Edition Kira’s Favorite - Orphan Black Roxanne’s Favorite - Gattaca Relevant DNA Today Podcast Episode: #110 Gattaca, 22 Years Later #134 Dr. Kat Arney on Cancer Evolution #202 Duchenne Muscular Dystrophy (DMD) with Ann Martin and Madhuri Hegde #250 Orphan Black: The Next Chapter with Madeline As

Kidney disease affects more than 1 in 7 adults in the United States, yet many people do not realize they are at risk until symptoms become serious. For some patients, kidney disease is tied to rare or genetic causes, making diagnosis and treatment even more complex. In this episode of DNA Today, we explore focal segmental glomerulosclerosis (FSGS), APOL1-mediated kidney disease (AMKD), and the real-life impact of navigating a rare kidney disease diagnosis as a young adult. Joining the show is Emani McConnell-Brent, who shares her personal experience living with FSGS, from early symptoms and delayed diagnosis to the emotional toll of learning her kidney disease is genetic. Also featured is Dr. Pranav Garimella, Chief Medical Officer at the American Kidney Fund, who explains the science behind FSGS, when genetic testing for conditions such as AMKD should be considered, and why earlier recognition of kidney disease symptoms can make such a meaningful difference. Together, they discuss the importance of listening to patients, not dismissing early warning signs like protein in the urine, and improving access to genetic evaluation for people with unexplained kidney disease or a family history of kidney problems. Emani also opens up about how kidney disease changed her daily life, from monitoring her blood pressure and swelling to adjusting her plans, energy, and expectations as a young adult. Her story is a powerful reminder that earlier diagnosis does not just impact medical management,  it can also shape a person’s mental health, future planning, and sense of control. The episode also highlights the work of the American Kidney Fund, including its mission to support people living with kidney disease through education, advocacy, prevention, and resources for both patients and healthcare providers. In This Episode, We Discuss: What focal segmental glomerulosclerosis (FSGS) is How FSGS affects kidney function Emani McConnell-Brent’s journey to diagnosis The role of APOL1 genetic risk variants in kidney disease Why persistent protein in the urine should not be overlooked When genetic testing may be appropriate in kidney disease evaluation The mental health and lifestyle impact of chronic kidney disease in young adults How the American Kidney Fund supports patients, families, and providers About the Guests Emani McConnell-Brent is a full-time student at Bowie State University majoring in psychology. She is an advocate for kidney health and mental health. Despite Emani’s diagnosis of focal segmental glomerulosclerosis (FSGS) in 2020, she has invariably displayed ambition, resilience and transparency. She refuses to allow her diagnosis or any lifelong outcomes to dictate her success. Instead, she views her diagnosis as an opportunity for advocacy and education. Emani has since devoted her platform to telling her story and to bringing awareness to APOL1-mediated kidney disease and health disparities among African Americans.    Dr. Pranav Garimella, MBBS, MPH, FASN, joined the American Kidney Fund as its first Chief Medical Officer in January 2025. A board-certified nephrologist and nationally recognized leader in rare kidney diseases, he also serves at UC San Diego Health as Director of Acute Dialysis Services and the Polycystic Kidney Disease Center of Excellence. Dr. Garimella is an accomplished researcher focused on kidney function, cardiovascular disease, bone health, and mortality, with NIH-funded work and more than 110 peer-reviewed publications. He is also a trained epidemiologist, frequent journal reviewer, and fellow of the American Society of Nephrology.  Resources Mentioned: American Kidney Fund (AFK)  AKF's Unknown Causes of Kidney Disease Project AKF’s Continuing education opportunities  AKF’s Explanation of APOL1-mediated kidney disease (AMKD)  Emani McConnell-Brent’s Instagram and LinkedIn advocacy  MedlinePlus’ Page on focal segmental glomerulosclerosis (FSGS)   Connect With Us: Luckily you don’t have to wai

In this special episode of DNA Today, Kira Dineen sits down with Mayte Garcia — artist, author, internationally acclaimed dancer, actress, singer, choreographer, philanthropist, and the former wife of Prince — for a deeply personal conversation about love, loss, legacy, and the rare genetic condition Pfeiffer syndrome type 2. You may know Prince as one of the most influential musicians of all time, but in this episode, we step beyond the public image and into a far more intimate story: Prince and Mayte as expectant parents, the profound love they shared for their son Amiir, and the devastating medical journey that followed after his birth. Mayte reflects on pregnancy, the bond she and Prince formed with Amiir before he was born, the difficult decisions they faced, and what it meant to navigate a rare diagnosis in the 1990s before information was as accessible as it is today.  Kira also provides helpful context on Pfeiffer syndrome, including its genetics, symptoms, and why Amiir’s diagnosis of the severe type 2 form carried such serious medical challenges. This conversation also explores grief — both private and public — as Mayte shares what it was like to mourn Amiir while under the intense pressure of public life. She offers moving insight for parents who feel pressure to hide their pain, and reflects on how writing her memoir, The Most Beautiful: My Life with Prince, became part of her healing. The episode closes on legacy: not only Prince’s legacy as a global music icon, but his humanitarian spirit and the work that continues through Live 4 Love Charities, the nonprofit founded in memory of Amiir and rooted in Prince’s philanthropic vision. This month marks 10 years since Prince passed away, and also 30 years since their son Amiir died. Mayte is honoring them both through a special Live 4 Love Charities Glam Slam Benefit in Los Angeles on April 21st, 2026. We Discuss: Prince and Mayte’s bond with Amiir during pregnancy Why they declined amniocentesis during the pregnancy What Pfeiffer syndrome type 2 is and how it differs from other forms The genetics of Pfeiffer syndrome, including FGFR2 and de novo variants The medical complexity of Amiir’s care after birth Prince as a father behind the public persona Grief, public image, and the pressure to “perform” wellness Mayte’s memoir and why she chose to tell this story The legacy of Amiir Prince’s humanitarian legacy beyond music Mayte’s leadership of Live 4 Love Charities The upcoming Glam Slam Benefit on April 21st honoring Prince’s life and impact About Mayte Garcia Mayte Garcia is a Puerto Rican dancer, choreographer, actress, singer, author, and philanthropist. A professional belly dancer since age three, she became internationally known as Prince’s muse, collaborator, featured dancer for the New Power Generation, and later his first wife. She is the author of the memoir The Most Beautiful: My Life with Prince. Mayte has appeared in numerous film and television projects, including Hollywood Exes, Army Wives, Psych, The Closer, and Nip/Tuck. She now leads Live 4 Love Charities, continuing a mission rooted in compassion, service, creative empowerment, and honoring the legacy of both Prince and their son, Amiir, who died from a genetic condition called Pfeiffer Syndrome.  Resources & Links Mayte Garcia’s memoir: The Most Beautiful: My Life with Prince Live 4 Love Charities Love In Action Program Stillborn And Infant Loss Support (S.A.I.L.S.), receipt of a $10,000 donation from the Love in Action Program. You can watch Mayte Garcia call the program to break the good news here.  Live 4 Music Program Live for Dance Program  Glam Slam Benefit Tickets Pfeiffer Syndrome: MedlinePlus’ Page  NORD Page Born A Hero, Research Foundation for all FGFR conditions    Relevant DNA Today Podcast Episode: #281 Tay-Sachs with Dr. Matthew Goldstein (regarding his late daughter Havi) #315 Preventing Sudden Cardiac Death via Genetics with Drs. Liebman & McNally (

Danon disease is a rare, X-linked metabolic disorder that strikes at the heart of cellular function. Caused by mutations in the LAMP2 gene, it disrupts the body’s ability to clear cellular waste (autophagy), leading to devastating and often life-threatening cardiac complications. Because the disease is so rare, understanding its natural progression, and how to stop it, is the current "North Star" for researchers and clinicians alike. In this episode, we are joined by two world-renowned experts to discuss the current landscape of Danon disease research: Dr. Barry Greenberg and Dr. Cordula Wolf. We dive deep into the mechanics of the disease, the importance of the LAMPLIGHT-NH observational study, and the groundbreaking LAMPLIGHT-2 interventional gene therapy trial. Meet the Experts Dr. Barry Greenberg (US): A pioneer in heart failure research and Director of the Advanced Heart Failure Program at UC San Diego. Dr. Cordula Wolf (Germany): A leading expert in pediatric cardiology and congenital heart defects, specializing in the clinical management of metabolic cardiomyopathies. Understanding the Disease Course Danon disease is fundamentally a "traffic jam" at the cellular level. Without a functional LAMP2 gene, lysosomes cannot fuse with autophagosomes, leading to a buildup of cellular debris. The Impact: This manifests primarily as hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. The Cardiac Threat: For many patients, especially males, the disease progresses rapidly toward end-stage heart failure or sudden cardiac death, often requiring heart transplants at a young age. Resources & Clinical Trial Links If you are treating a patient with a confirmed or suspected LAMP2 pathogenic variant, your referral to a study site can change the trajectory of their care. Observational (LAMPLIGHT-NH) Best for gathering data without changing current management. Natural History Study (LAMPLIGHT-NH): ClinicalTrials.gov NCT06214507 Interventional (LAMPLIGHT-2) A Phase 2 trial for those meeting specific cardiac and age requirements. Interventional Study (RP-A501): ClinicalTrials.gov NCT06092034 Official Study Website: LAMPLIGHT Studies   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis.  Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway.   Inside This Episode: The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives. Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss: The role of the NEU1 gene and how mutations lead to cellular dysfunction. The two primary forms of the condition (Type I and Type II) and their clinical presentations. Why Sialidosis is frequently misdiagnosed or overlooked by clinicians. Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis. The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026.   About Our Guests: Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected. Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families.     Relevant Resources:  CureSialidosis.org Kiwi siblings battling rare genetic condition Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald    More Lysosomal Storage Disorder Episodes on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #376 Why Females with Fabry Disease Aren’t “Just Carriers”  #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #281 Tay-Sachs with Dr. Matthew Goldstein #171 Farber Disease with Aceragen    Connect With Us:  Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli.

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape. Shoutout to the lead organizer Anthony Zuo for putting this conference together.    The Panel (in order of appearance)    David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.   Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome.    Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful.    Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.   Topics Discussed  The Burden of Expertise A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer. Navigating the Emergency Room David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort. The Battle with Insurance and Systems Kate shares a heartbreaking story of "Systemic Trauma": The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch. The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier." The Power of Community and Storytelling Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.   Relevant Resources:  Jill Gassman Zullo’s book Brokenly Beautiful Jonathan Cappiello’s podcast 1 of 20 podcast Kate Tokarski’s poem I Was 'That Mom'  National Organization for Rare Disorders (NORD) Undiagnosed Disease Network (UDN) Genetic and Rare Diseases Information Center (GARD)   Relevant Rare Disease Patient Advocacy Stories on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Connect With Us:   Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties. Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care. In This Episode, We Discuss Building a Medical Home What a “medical home” means for children with achondroplasia Common concerns families raise after a new diagnosis, beyond height Supporting families early while planning for long-term care Co-Morbidities & Clinical Complications Key conditions clinicians should monitor in infants and children, including: Foramen magnum stenosis Hydrocephalus Sleep apnea ENT issues like recurrent ear infections and hearing loss Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs How chronic pain presents and is managed across childhood and adulthood Living With Achondroplasia How medical needs evolve from childhood into adolescence and adulthood The role of fatigue, mobility limitations, and accessibility in daily life Balancing medical care with childhood independence and normalcy Under-recognized burdens that significantly affect patients and families Multidisciplinary Care in Practice What a full skeletal dysplasia care team looks like How palliative care supports symptom management, decision-making, and quality of life Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology Preventing communication breakdowns between providers Helping families navigate complex choices around interventions and surgeries Looking Ahead Gaps in current care models for achondroplasia How emerging treatments are changing long-term planning conversations Key takeaways for providers who may only occasionally care for patients with achondroplasia   Our Guest Dr. Ricki Carroll: Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee.   Achondroplasia Resources:  Little People of America (LPA)  Dwarf Athletic Association of America (DAAA)  International Achondroplasia Forum  Achondroplasia GeneReviews  Achondroplasia Growth Charts Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia.

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference!    We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing.   Our episode is broken into three segments…   Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger    Relevant Resources:    Baylor Genetics Segment Resources:  Baylor Genetics Announces Enhanced Whole Genome Sequencing Test Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies  AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay   Illumina Segment Resources:  Genomewide Sequencing Ontario Project  Illumina’s Emedgene variant interpretation software  Illumina’s Grand Rounds in Genomic Medicine  Genome Aggregation Database (gnomAD)    Ambry Genetics Segment Resources:  Ambry Genetics’ Patient for Life website and white paper Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield  Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics  Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access”   Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project #231 ChatGPT and AI In Genetics with Daniel Uribe #285 AI To Enhance Variant Curation with Daniel Uribe #297 Exome Reanalysis with Ambry Genetics #303 RNA Analysis with Ambry Genetics #325 Revolutionizing Variant Curation with MAVEs #334 ACMG 2025 Recap #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey   Upcoming Conferences: In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026… Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego  Podcast Movement in September in New York City  American Society of Human Genetics (ASHG) in October in Montreal National Society of Genetic Counselors (NSGC) in November in Baltimore     Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LC

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing. Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss. Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care. Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq. Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant? Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time. When Results Are Inconclusive: How to handle unexpected or unclear RNA findings. Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice. Implementation Barriers: Challenges to scaling multi-omic testing in routine labs. Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade. Resources & Links: Learn more about Baylor Genetics here Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network   Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections   Connect With Us:  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey.   In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades.   Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries.   Together, we discuss: How rare disease care in Brazil compares to the U.S. Why whole genome sequencing is a game changer for undiagnosed patients Lessons learned from national-scale genomics initiatives The role of public–private partnerships in sustaining innovation What the future holds for rare disease diagnostics worldwide Relevant Resources:  MGI Tech MGI’s Sequencing Platforms  NeoGenomica NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses. 100,000 Genomes Project by Genomics England Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582 Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637.   Relevant DNA Today Podcast Episode: #285 AI To Enhance Variant Curation with Daniel Uribe #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI  #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI   Connect With Us:  Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. C

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab.    This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only.   To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link!  Don’t miss all the episodes this season!    In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster?    Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only.     Episode Discussion Topics: The importance of clear definitions: functional vs. complete cures Why developing universal medical cures is incredibly complex  The role of clinical trials in developing potential medical cures How AbbVie’s Pathway to Cures program fosters collaboration and innovation The transformative impact of precision medicine and reverse translation How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies The emotional and practical significance of potential medical cures for patients and scientists Relevant Resources:  Listen to The Persistence Lab AbbVie: Pathway to Cures AbbVie: Can We Find Cures Faster Article AbbVie: AI & Data Convergence   Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution. In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever.  Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms. This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined. Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations. The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world.   Topics Discussed In This Episode: An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species Exploration of natural selection and Darwin’s enduring influence on modern biology How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories The role of horizontal gene transfer in microbial evolution and its significance Highlights from Connecticut’s 2026 Darwin Day celebration Charles Darwin’s “entangled bank” and its relevance today What Darwin got right—and what modern science has updated Natural selection at the gene level vs. organism level Why evolution isn’t always gradual: rapid change and hybridization Horizontal vs. vertical gene transfer explained How viruses, bacteria, and other mechanisms move genes across species The role of horizontal gene transfer in microbial evolution Real-world implications for medicine, antibiotic resistance, and biotechnology How curiosity and early inspiration shape scientific careers The importance of science communication and public engagement   About Our Guest:Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering.   About the Event:This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a k

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels.    The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change.   The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work.    In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives.    In This Episode:    Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I Being told “nothing can be done” and choosing to challenge that narrative Navigating rare disease advocacy before the internet, social media, or established drug development pathways Teaching himself medical and scientific concepts without formal training Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach Building a nonprofit organization from the ground up to support research and families The fragmented healthcare and research system rare disease families faced in the 1990s The critical role of relationships in advancing rare disease research Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress Bridging families, clinicians, and researchers to accelerate treatment development The path to developing the first treatment for MPS I How one family’s advocacy changed outcomes for future patients Parents as drivers of innovation in rare disease Persistence, collaboration, and problem-solving in the absence of clear systems Enduring lessons for today’s rare disease community and advocates   Gene Pool Media: The Science Podcast Network: Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas Humanism Today Gods and Genes If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at info@genepoolmedia.com. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today.  Relevant Resources:  Rare Rebels Website Rare Rebels on Spotify Rare Rebels on Apple Podcasts  MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page Gene Reviews’ Mucopolysaccharidosis Type I Page Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases Relevant DNA Today Podcast Episode: #171 Farber Disease with Aceragen (also a lysosomal storage disorder)  #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder)  #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients Connect With Us: Luckily you don’t have to w

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation. Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use. Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality. In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology How IPATIMUP fits into Europe’s oncology landscape Why a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflows Balancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner Why IPATIMUP selected MGI sequencing platforms What differentiates MGI’s technology in oncology applications The importance of flexibility across DNA and RNA testing Why long-term technical collaboration matters beyond installation Large Gene Panels in Clinical Practice How Gene+ selected the 1,021 genes included in its oncology panel Real-world experience using large DNA and RNA panels in routine diagnostics Why the Gene+ panel pairs effectively with MGI’s sequencing platforms What it takes to move from validation to clinical implementation RNA Sequencing as a Diagnostic Advantage How RNA sequencing complements DNA-based testing in oncology When RNA sequencing provides the most clinical value How RNA data can increase diagnostic confidence in complex cases Automation, Scale, and Quality Why automation is essential for high-throughput oncology labs Reducing hands-on time and minimizing human error Practical advice for labs looking to scale while maintaining consistency and quality   Relevant Resources:  IPATIMUP MGI Tech MGI’s Sequencing Platforms  Gene+ (Website currently under construction)   Relevant DNA Today Podcast Episode: #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel   Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSk

February 3rd, 2026 Update: The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it).   January 30th, 2026 Update: Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government.The next step for the bill is to go back the U.S. House of Representatives for final passage.Urge your representatives to pass this legislation, MDA made it easy to do so here.    January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th.  Urge your senators to pass this legislation, MDA made it easy to do so here.  Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you!    ------------------------------------------------------------------------------   What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment.    We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.   We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it.    In This Episode, We Discuss What’s Actually Happening With NIH Funding Why the phrase “NIH cuts” understates the real-world impact on patients and families What proposed reductions for Fiscal Year 2026 could mean for rare disease research How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials Why Rare Disease Research Is Especially at Risk Why rare disease programs are more sensitive to funding instability than common conditions The difference between slowed progress and permanent loss for progressive neuromuscular diseases How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge Neuromuscular Disease Research in 2026 Where neuromuscular research stands today and what breakthroughs are closest to patients Which types of studies are most vulnerable to funding cuts How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases Policy Realities & Misconceptions How to explain to policymakers that cutting research now increase

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life. Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next. We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care. On This Episode We Discuss: Aging in Place & Memory Care What families are most concerned about when trying to keep a loved one at home How memory-related illnesses change caregiving compared to physical limitations alone Common misconceptions about the progression of cognitive decline What “successful aging in place” realistically looks like Medication Challenges in Older Adults Why polypharmacy is so common—and so risky—in later life How medications that once worked well can become problematic over time Real-world examples of unexpected medication reactions in individuals with memory changes Why older adults are especially vulnerable to side effects, particularly with cognitive impairment Pharmacogenomics, Explained for Caregivers What pharmacogenomics (PGX) is and how to explain it to families in practical terms Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated How PGX may help prevent medication-related crises before they happen PGX in Home-Based Memory Care How pharmacogenomics could reshape medication decisions for dementia care Medication categories that often raise red flags in older adults How genetic insights may help protect individuals who can’t clearly report side effects Advocacy, Access & System Gaps Barriers families face when trying to access PGX-informed care How caregivers can request medication reviews without feeling confrontational Where healthcare systems often fall short of the realities families manage at home Looking Ahead What it would mean to routinely integrate pharmacogenomics into elder care Michele’s key message for caregivers navigating medications, memory care, and aging in place Our Guest:  Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life.Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true. She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching. Relevant Resources: Need Health?  UChicago News: Women are overmedicated because drug dosage trials are done on men, study findsClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Impl

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families. We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals.  Topics Covered in This Episode What Fabry disease is and how it affects the body. The impact of Fabry’s X-linked inheritance on clinical presentation. Why the term “just a carrier” is misleading for females or people with two X chromosomes. Variability in disease expression among females and key clinical cases. Classic vs. later-onset Fabry phenotypes and diagnostic challenges. Common signs and symptoms that often go unrecognized. Barriers leading to delayed diagnosis and under-recognition. Benefits of early detection and cascade family screening. Managing variants of uncertain significance (VUS) in the GLA gene. Limits of genotype–phenotype correlations in Fabry disease. Psychosocial challenges for families living with a Fabry diagnosis. Advice for clinicians and genetic counselors evaluating potential Fabry patients. Resources & Links The brand new website, FindingFabry.com has additional information and resources.  Amicus’ website here also has information about Fabry disease.  Patients’ stories about living with Fabry disease.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine. We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact: Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Topics Covered In This Episode:  The stories behind scientific breakthroughs and what fuels discovery How collaboration across disciplines accelerates innovation Translating genetic discoveries into real-world therapies The role of publishing and open science in driving progress How journals are adapting to promote transparency and reproducibility Advice for early-career researchers balancing ambition with sustainability The evolving landscape of global collaboration in science How AI and automation are transforming both research and publishing The ethics and equity considerations of AI-driven science The importance of representation and global voices in genomics Key Takeaways True innovation thrives on collaboration—across labs, disciplines, and continents. Publishing isn’t the end of science; it’s a catalyst for connection and progress.Bridging basic discovery to clinical application requires persistence and shared purpose. Transparency, communication, and mentorship are essential to the next wave of breakthroughs. Relevant Resources:  Wiley Advanced Portfolio  Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection  Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors Wiley’s ExplanAItions 2025: The evolution of AI in research What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life  Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering   Relevant DNA Today Podcast Episode: #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests)    Connect With Us:  Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to delive

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning?  To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine.  Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution.   On This Episode, We Discuss:   Setting the Stage: Rome’s Personal Journey How Rome entered the genetics and diagnostics space shortly after the Human Genome Project What motivates his continued work at the intersection of innovation, patients, and access Why confidence, curiosity, and communication matter in fast-changing scientific fields The Early Era: Post–Human Genome Project What diagnostics felt like in the early 2000s Early pharmacogenomics and predicting chemotherapy response Barriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard care Shifts in how clinicians and patients talked about risk and prevention Lessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier eras Ongoing challenges around affordability, access, and education The role of podcasts and science communication in empowering patients Looking Ahead: The Next Era of Genetic Testing What might define the next wave: RNA, epigenomics, microbiome, multi-omics Where AI and advanced data analytics fit into future care models Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential Whether population-wide genetic testing could become routine in the years ahead   About the Guest Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured.   Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare.   Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries. Relevant Resources:  Genetics for Healthcare Podcast Hosted by Rome Madison  American Lung Association; EGFR and Lung Cancer  Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm National Comprehensive Cancer Network Guidelines  The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!)   Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #182 Eric Gree

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today.     Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College.    Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment.  Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing.   Patient Name: Liam Ventura  Parent Names: Mary and Sam Ventura   Medical History: Pregnancy: Uncomplicated Full term (39 wks) via NSVD No exposures or complications reported Normal prenatal ultrasounds Newborn Screening: Elevated immunoreactive trypsinogen (IRT) Two CFTR variants identified on screening panel Development: Appropriate for age Growth: Slightly below weight percentile Symptoms: Mild cough, parents believe it’s due to the change of weather Specialists Seen: Pediatrician only so far Medications/Treatments: None currently Therapies: None currently Family History: Ancestry: Dad- Irish  Mom- Af. American No consanguinity, birth defects, or known genetic conditions No history of cystic fibrosis or early infant deaths One paternal cousin with male infertility   Prior Carrier Results:  Dad- F508del Carrier  Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss:   Understanding Hunter Syndrome (MPS II) What it means to have a metabolic disorder and how MPS II affects the body Common symptoms and how the disease progresses over time The variability in presentation and severity among individuals A Family’s Journey Through Hunter Syndrome Kristin’s experiences growing up with a brother affected by Hunter syndrome Losing Zachary and later receiving the diagnosis for her son, Charlie How these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & Impact The origins and mission of Project Alive Key initiatives supporting research, families, and advocacy How the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 Delay Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families The emotional and practical impact of regulatory delays in ultra-rare diseases What changes could help expedite review processes for rare disease therapies Advocacy, Equity & Access How Project Alive amplifies the voices of a small but urgent patient community Strategies for engaging policymakers and industry partners Lessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can Help What listeners can do to support Project Alive Opportunities for advocacy, awareness-building, and community engagement Relevant Resources:  Project Alive MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692. The Precision Medicine Initiative launched by President Obama  It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that m

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome: Lack of carrier screening during IVF. Genetic aspects and impact on DNA repair. Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan: Importance of specific growth charts and dietary considerations. Role of a supportive community and foundation efforts. Overlap with Other Disorders: Similarities with other DNA repair disorders. Importance of awareness and advocacy. Support and Encouragement: Message to families and caregivers about community support. Emphasis on shared experiences and advocacy.   Relevant Resources:  Cockayne Syndrome Foundation TikTok: @HopeForCS Instagram: @HopeForCS Facebook  Cockayne Syndrome Page on MedlinePlus  Trichothiodystrophy (TTD) on MedlinePlus   Cockayne Syndrome: A Manual for Healthcare Providers Cockayne Syndrome: A Manual for Parents and Caregivers Growth Chart: Cockayne Syndrome Type 1 and Type 2 The National Initiative for Cockayne Syndrome (NICS)  Amy and Friends MRI Lego Set  Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum) Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329.   Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases   Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026.    The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper.    Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green.    In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts.  Top 2025 Papers With Genomic Medicine Advancements Gene Therapy  CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe Utility of a high-activity variant in gene therapy for hemophilia B  Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detection Long-read genome sequencing identifies diagnostic variants  Exome sequencing in critical illness is useful in adults as well as children  Other Utility of pharmacogenomics in chemotherapy for GI cancers  Polygenic risk score disclosure reduces adverse cardiovascular events  Preimplantation genetic testing reduces risk of mtDNA diseases  The Guests:    Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine.   Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research.   Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics.   Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI str

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession.    Episode Topics Discussed: Kathy's Motivation and Background Kathy's role as a program director and her journey in genetic counseling. The importance of scholarships and funding for diverse backgrounds. Grant Funding and Impact Details of the grants from the Warren Alpert Foundation. The impact of these grants on genetic counseling education and diversity. Challenges in Genetic Counseling Discussion on the barriers to funding and access in genetic counseling. Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and Networking The role of mentorship and networking in Kathy's success. Advice on starting with small grants and building a track record. Programs Supported by Grants Overview of the Alliance for Genetic Counseling and Career Ladder Education Program. Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing Education The importance of continuing education for genetic counselors. Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring Success Metrics and outcomes of the grant programs. Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients  Kathy's advice on grant writing and overcoming imposter syndrome. The importance of perseverance and community support. Future of Genetic Counseling Kathy's vision for the future of genetic counseling. The need for continued education and support in the field.   The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field.  Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care.   Relevant Resources:  Grant Superhero: Kathleen Valverde, PhD, LCGC Dr. Kathleen Valverde’s PubMed Articles Warren Alpert Foundation The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC) Alliance for Genetic Counseling Fellowship  Audrey Heimler Special Projects Award (AHSPA) Jane Engelberg Memorial Fellowship (JEMF) The Basser Center for BRCA PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell    Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff)  #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference  #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Adv

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency.  This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.  We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   The Actors: Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today.     Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College.    Mock Cardiac Genetic Counseling Session Outline Session Indication:  The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor.  Contracting  Brittany introduces herself as the genetic counselor and confirms the referral reason. The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications. Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities. Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns. Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing. Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient. Information on how to reach out with further questions and the plan for future appointments.   Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions   Pre

Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “Gods and Genes”, a new brand podcast in the Gene Pool Media network hosted by Amber Sher, MS, CGC. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own worldviews shape care at the bedside. Amber shares her personal background growing up in a religiously mixed home (Christian/atheist), her journey through deconstruction and back to a post-deconstruction Christian identity, and why that lived experience drew her to study religion and spirituality in genetic counseling for her graduate capstone at Keck Graduate Institute (KGI). With training in genetic counseling and a background shaped by a religiously mixed upbringing, Amber brings a unique perspective on how to navigate questions of faith in medical settings. Be sure to subscribe to Gods and Genes on your podcast app, here on Spotify and here on Apple Podcasts, so you don’t miss future episodes exploring belief, meaning, and medicine. Episode Topics Discussed: Why this show, why now: The vision for Gods and Genes and the gap it fills in clinical education and patient care. Science + spirituality as complements: Curiosity, mystery, and how questions in science and faith can productively coexist. Amber’s path: Growing up with Christian and atheist parents, deconstruction, and how that shapes her clinical stance today. Inside the capstone study: What genetic counselors report hearing from patients about faith/spirituality, and how prepared they feel. Key finding: Providers’ perceived helpfulness in faith-related conversations did not differ by their own religiosity, spirituality, affiliation, or years of experience, suggesting this is a trainable skill. Practical language clinicians can use: Validating statements (“It sounds like your faith is important in this decision…”) Reflective summaries to check understanding Thoughtful reframing that integrates beliefs with medical options (and knowing when to refer to chaplaincy) When beliefs and recommendations diverge: Staying non-directive, exploring assumptions, and correcting myths (e.g., privacy/HIPAA concerns). Partners in care: Why clergy (e.g., rabbis in Orthodox communities) are often medical advocates, not adversaries, and how to collaborate. Common misconceptions, both ways: Among clinicians about “what clergy do” and whether to invite them in Among faith communities about what genetic counselors do beyond prenatal care Invitations to the community: Amber seeks conversations with religious scholars, non-religion/unbelief researchers, chaplains, clinicians, and patients willing to share how belief (or non-belief) shaped their care.   Correction: Around 12 minutes and 30 seconds into the episode (varies depending if you are consuming the audio or video version), Amber shares that in every session religion/spirituality comes up, she meant to say every rotation she went through, not with every patient.    Key Takeaways: Patients raise spiritual or religious concerns more often than many trainees expect; be ready, not reactive. You don’t need to be religious to be helpful; skills can be learned (validation, reflection, collaboration). Not every visit needs a spiritual history, follow the patient’s lead. Chaplains, rabbis, clergy etc. can be allies who understand medical contexts and patient values. Thoughtful reframing (when appropriate) can align faith commitments with evidence-based options without being directive.   Relevant Resources:  Religion On the Mind podcast hosted by Dan Koch (Spotify, Apple, and Substack)  "Utterly Humbled by Mystery" by Father Richard Rohr Rob Bell on Spirituality and Mystery Richeimer N, Wilson K, Petrasek A, Weiner J. Emunas Chachamim (faith in the sages): A prenatal genetic counseling needs assessment of Orthodox Jewish clergy in Los An

We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field. This marks the 7th year in a row that DNA Today has produced an NSGC recap episode, and it continues to be our favorite conference of the year (shhh don’t tell the others).  Our host Kira Dineen, MS, LCGC, CG(ASCP)CM, spent the week attending sessions, reconnecting with past guests and sponsors, and meeting so many listeners in person (thank you to everyone who stopped to say hello!). In this episode we conduct a few in-person lightning interviews featuring attendees of the conference highlighting their favorite sessions and what they learned. Attendees featured include Grace Drew, Celine Belekdanian, Sofia Sheikh, Cristina Liriano Cepin, and Kim Ta.  Kira Dineen was one of six panelists for the preconference workshop, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. After it wrapped she caught up with Kate Wilson to reflect on entrepreneurship as a career path for genetic counselors. Kate Wilson was the session coordinator and moderator. Kate’s two podcasts All Access DNA and DNA Dialogues are housed under our science podcast network, Gene Pool Media.  Relevant Resources:  NSGC Professional Status Survey (PSS) DNA Dialogues, Journal of Genetic Counseling’s Podcast All Access DNA Gene Pool Media: The Science Podcast Network   Relevant DNA Today Podcast Episode: #232 Entrepreneurship in Genetics with Matt Tschirgi #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #307 NSGC 2024 Recap   Curious about other NSGC conferences? We have recapped the last seven years of conferences including 2019, 2020, 2021, 2022, 2023, and 2024.    Don't forget to mark your calendars! The 45th NSGC Annual Conference is happening next year in Baltimore, MD from November 10-14, 2025. We are already excited to eat lots of crab cakes with fellow genetic counselors.    What’s next on our conference schedule? We will be in New Hampshire for NERGG December 4th and 5th. Our host Kira Dineen will be presenting about how to utilize social and digital media in advocacy efforts. Check out the agenda here and register here, and if you are a student you get 50% off! Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vaccine development who was featured throughout the film “Ending HIV: The Journey to a Vaccine”. The film won the Jury Award for Best Professional Documentary Feature at the festival.    While at the festival our host/producer Kira Dineen accepted the Backstage Best Actor Award (Female) on Devin Sidell’s behalf. You may remember her from Episode #360 where we talked with her about her film “Love, Danielle” which is the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    The Guest:    Dr. Larry Corey is the former president and director of Fred Hutch Cancer Center. His research focuses on herpes viruses, HIV, the novel coronavirus and other viral infections, including those associated with cancer. For 25 years Dr. Corey has led the HIV Vaccine Trials Network (HVTN), the largest international research network focused on developing a safe and effective vaccine against HIV. In 2020 he was selected by Dr. Anthony Fauci to lead the CoVID Prevention Network to run the clinical trials for COVID-19 under Operation Warpspeed. The scientific work on HIV made it possible to achieve a COVID vaccine in record time. In turn, COVID vaccines gave us mRNA technologies and the ability to speed up vaccine development and save more lives.  “Ending HIV: The Journey to a Vaccine” Documentary:    This powerful and timely documentary masterfully chronicles one of the most significant scientific pursuits of our era, spanning decades of research and resilience.   Since the early 1980s, scientists, researchers, community organizers, faith leaders, and countless organizations have poured their lives into understanding and battling HIV — the most complicated virus medicine has ever faced.   When the HIV Vaccine Trials Network (HVTN) was formed in the 1990s, an unprecedented global collaboration took shape. But until now, the tireless work across countries, races, genders, and disciplines had never been fully narrated on screen.   On This Episode We Discuss: In this in-person conversation, Dr. Larry Corey discusses his extensive experience in vaccine development, particularly focusing on the challenges of creating an HIV vaccine compared to COVID-19. He highlights the genetic diversity of HIV, the evolution of vaccine strategies, and the importance of community engagement in research. Dr. Corey also emphasizes the impact of HIV research on broader scientific fields and addresses the ongoing issue of vaccine skepticism in public health.   HIV's genetic diversity complicates vaccine development significantly. Understanding immune evasion strategies is crucial for creating effective vaccines. The evolution of vaccine strategies has shifted focus from T cells to B cells. Infrastructure built for HIV research facilitated rapid COVID-19 vaccine development. Community engagement is essential for successful vaccine trials and public trust. HIV research has led to advancements in other areas of medicine and science. Continued funding for HIV research is critical for future breakthroughs. Vaccine skepticism poses a significant challenge to public health initiatives. Engaging with communities can help combat misinformation about vaccines. An HIV vaccine may be achievable within the next few years. Relevant Resources:  Watch the full documentary “Ending HIV: Journey to a Vaccine” on their website here Learn about the HIV Vaccine Trial Network here Learn more about the science behind HIV research here See the road of the HIV milestones here Find out if there's a study clinic near you here, their studies are conducted at over 40 research sites across the United States Find out more about volunteering for a study here Access information about The Fred Hutch Cancer Center h

On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there. We’re joined by two expert guests: Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy. Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine. Topics Covered in This Episode How lifestyle, environment, and genetics contribute to cancer risk Why breast cancer genetic testing is a major public health priority in Italy The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen How mutations (pathogenic variants) in these genes contribute to cancer risk Why Negedia partnered with MGI Tech and what makes the technology innovative Sequencing exons and select non-coding regions for more complete genetic risk analysis How variant databases have expanded, improving interpretation and curationThe importance of cost-effectiveness in scaling genetic testing in national healthcare systems Unique barriers Italian patients face compared to the U.S. in accessing genetic testingThe role of general practitioners vs. specialists in referrals for genetic testing in Italy Looking ahead: Will Italy move toward population-wide BRCA screening? Should more genes be added to future panels (TP53, RAD51C/D)? How spatial transcriptomics and multi-omics may reshape hereditary cancer care Biggest opportunities and challenges for scaling genetic testing globally Resources:  Negedia MGI’s Sequencing Platforms    Relevant DNA Today Podcast Episodes: #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst  #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”   Fact Check: Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc.    Connect With Us:Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky,

We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in the historic Boston, Massachusetts! This year’s gathering brought together thousands of geneticists, clinicians, and innovators to share discoveries that are reshaping the field.  In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster sessions and thought-provoking sessions to spontaneous hallway conversations that sparked new ideas. You’ll hear from researchers pushing the boundaries of genomic medicine, genetic counselors reflecting on the future of the profession, and industry leaders unveiling the latest breakthroughs in sequencing and data interpretation. The energy in Boston was electric, collaboration and networking were the keywords of the week, and optimism about the future of genetics filled every session. Whether you attended in person or are catching up from afar, this recap captures the highlights, trends, and takeaways that defined ASHG 2025.   Sessions Recapped & Conference Aspects Explored: Ivy Bethea’s presentation, “Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists,” was discussed. She was the first genetic counseling trainee to deliver a plenary talk at the conference. Ivy Bethea is a recent graduate of the The Columbia University Program in Genetic Counseling.    We also teamed up with Wiley Advanced Portfolio to co-host a breakfast where our host Kira Dineen moderated a panel exploring the publishing landscape in genetics. Highlights from this session were recapped and reflected upon.    The expert that holds the record for most guest appearances on DNA Today is Dr. Eric Green, who received the prestigious and well deserved ASHG 2025 Leadership Award. We reflect on his acceptance speech filled with wisdom for genetic experts to be leaders. We recognized the absence of many of his colleagues at the NIH as they were not permitted to travel to the conference during the US government shutdown and the impact it had at the conference overall. We also discussed how funding has drastically changed from the NIH and how that is affecting genetic research in the US.    Guests: Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s globa

What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and structural abnormalities. We’ll explore what OGM is, how it compares to existing genetic tests, and what it means for patients and families worldwide.   Our guest is Dr. Nikhil Sahajpal, Assistant Director in the Cytogenetics and Molecular Laboratories at the Greenwood Genetic Center (GGC) in Greenwood, SC. He led the validation of OGM at GGC.    He earned his PhD in Pharmaceutical Sciences in India before completing postdoctoral training at Augusta University in Augusta, Georgia, where he focused on advancing molecular and cytogenetic methodologies for prenatal, pediatric, and oncology applications. During his time there, he also played a key role in establishing FDA/EUA-approved diagnostic testing and research for COVID-19.   Dr. Sahajpal began his Laboratory Genetics & Genomics fellowship at GGC in the summer of 2022. During his fellowship, he trained extensively in the implementation and interpretation of molecular and cytogenetic diagnostic tests and led the development and validation of a novel clinical test, optical genome mapping.   Now as an Assistant Director, Dr. Sahajpal continues his innovative work while advancing GGC’s mission of providing state-of-the-art diagnostic tools along with compassionate care for patients and families affected by genetic disorders.   In this conversation, we explore:   OGM basics – what it is, how it works, and why it matters Why Greenwood Genetic Center adopted OGM and Dr. Sahajpal’s role in leading the project How OGM compares to karyotyping, microarray, FISH, and NGS The resolution advantage of OGM and its impact on clinical care Early success stories where OGM provided answers missed by other methods Insights from GGC’s study on neural tube defects (NTDs), including the discovery of candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4) How OGM could help reduce the diagnostic odyssey for rare disease patients The future of OGM – will it replace traditional cytogenetic techniques or work alongside them?   Relevant Resources:    Greenwood Genetic Center’s Optical Genome Mapping – Complete and Targeted  Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552.   Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #279 Reflecting on 50 Years of Greenwood Genetic Center #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey (discusses dual diagnoses)  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, Li

The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut.    Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now shared as this podcast episode.    This panel conversation explores the economics of genetic counseling, focusing on the current financial climate, the role of genetic counselors in healthcare, and the importance of adaptability and networking for career development. The discussion explores challenges faced by students and professionals in the field, the need for expanded roles, and the significance of engaging with industry and policy to secure the future of genetic counseling.   The Connecticut Genetic Counselors' Association (CTGCA) is a not-for-profit statewide genetic counselors' association with a mission to foster, support, and strengthen the community of genetic professionals, in the common pursuit of improving clinical genetics and genomics care, within the state of CT. If you are a genetic counselor who lives in Connecticut become a member for free here.    The Jackson Laboratory for Genomic Medicine focuses on research in human genomics, complementing their long history of mammalian genetics expertise. JAX Genomic Medicine, which opened in 2014 next to the UConn Health campus, facilitates clinical collaboration with Connecticut’s many universities and hospitals. Kira Dineen also attended the grand opening back in 2014 and recapped it on all the way back on Episode #6 of DNA Today.    The Panel:    Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field; is an established educator, lecturer, and media spokesperson; and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively.   Maria Gyure, MS, CGC currently serves as the Program Director for the University of Connecticut’s Genetic Counseling Professional Science Master’s Degree Program. Her passion for education in clinical genetics led her to design and lead two online graduate certificate programs for UConn. Her expertise in online learning has been recognized nationally and she continues to champion for the benefits of quality and accessible learning. An alumna, she attended UConn on a 4-year Academic Leadership Scholarship where earned a Bachelor of Science degree in Diagnostic Genetic Sciences and a minor in Molecular and Cell Biology. Maria subsequently matriculated into the Genetic Counseling Program at Virginia Commonwealth University in Richmond, VA, where she earned a Master’s of Science in Genetic Counseling and completed the VA Leadership Education in Neurodevelopmental Disabilities (Va-LEND) program. Maria served as a clinical genetic counselor and later combined genetic counseling with research and served as the research coordinator for multiple federally funded research grants on both family communication about cancer and interventions for young children at risk for emotiona

What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation.    In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings her own BRCA1 journey to the screen, and Amy Byer Shainman, the BRCA Responder, a patient advocate and producer of the film. Together, we explore the science of BRCA mutations, the personal impact of hereditary cancer, and how storytelling can transform the way we understand genetics and health.    Breast cancer awareness month starts next week which is perfect timing as for Love, Danielle will be released in North America on October 3, 2025! You can watch it on Apple TV, Amazon Prime, and many more digital platforms.   Devin Sidell    A Los Angeles native, Devin Sidell graduated cum laude from Princeton University and then moved back to L.A. to pursue a career in film and television, appearing as Teen Lois on "Malcolm in the Middle" and recurring as Abigail Stevens on "The O.C." She won an L.A. Weekly Award for her performance in "Land of the Tigers" at Sacred Fools Theatre and was nominated for both LADCC and Ovation Awards for the musical "The Behavior of Broadus," co-produced by Center Theatre Group. Devin has appeared in shows at the Kirk Douglas Theatre as well as on The Broad Stage opposite Josh Gad and Bryce Dallas Howard.   In addition to appearances on "Ray Donovan" opposite Liev Schreiber, the viral singing criminals cold open on "Brooklyn Nine-Nine" (yes, that cold open!), "NCIS," Lena Waithe's "Twenties," and B.J. Novak's "The Premise," Devin appears in Rob Zombie's horror film "31" (Sundance Film Festival) and recurs as a sketch performer on "Jimmy Kimmel Live!" A carrier of the BRCA1 gene mutation with a family history of ovarian and breast cancers, Devin decided in 2017 to undergo both a preventative double mastectomy and a preventative hysterectomy/oophorectomy, earning her the label of "previvor." She is in post production on the dark comedy feature film "Love, Danielle" about her experience. She is a proud member of the Television Academy.   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.    Amy Byer-Shainman    Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Her goal is to educate, entertain, and empower others through creative writing and film. Her medical memoir Resurrection Lily has won 14 literary awards and was a 2020 book club selection of the National Library of Medicine. She has also been an Executive Producer for multiple documentaries including The Two Dollar Bill Documentary and Pink & Blue: Colors of Hereditary Cancer. She is a producer on the feature film Love, Danielle.   Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal.  Topics Covered How Devin’s personal BRCA1 positive experience inspired Love, Danielle The role of advocacy and why Amy joined the project as a producer Breast, ovarian, prostate, and other cancer risks linked to BRCA1/2 mutations Emotional realities of risk-reducing surgery and family dynamics in hereditary cancer Fertility, family planning, and their intersection with BRCA decision-making Misconceptions about BRCA testing and hereditary cancer syndromes The po

What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today.  Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing research and clinical focus on achondroplasia, Dr. Legare is here to walk us through the condition’s genetic cause, clinical presentation, and the importance of a multidisciplinary care model. We also discuss non-invasive prenatal screening (NIPS), psychosocial support, and the community’s role through organizations like Little People of America.     Key Takeaways:  Achondroplasia is caused by a gain-of-function variant in the FGFR3 gene, which causes impairment of endochondral bone growth. 80% of cases occur de novo in families without a history of skeletal dysplasia. Multisystem complications beyond bone growth require coordinated care. NIPS may detect achondroplasia earlier than ultrasound in some cases. Tailored growth charts and tools like QoLISSY support tracking and quality of life. Psychosocial and community support is crucial, especially early in life. Misconceptions remain and genetic counseling plays a key role in correcting them.    Relevant Skeletal Dysplasia DNA Today Episodes:  #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer  #301 Dwarfism with Colleen Gioffreda  #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders)    Achondroplasia Resources:  Little People of America (LPA)  Dwarf Athletic Association of America (DAAA)  International Achondroplasia Forum  Achondroplasia GeneReviews  Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435.  Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010   Stay tuned... this episode is actually the first episode in a series about achondroplasia. In the next installment we will learn more about co-morbidities and multidisciplinary care. Then in the third episode will discuss currently available targeted therapy.   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.   While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”  Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!   DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

The AGBT Precision Health 2025 Meeting took place this week at the sunny and gorgeous Loews Coronado Bay Resort in the San Diego, California area.  This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world implementation, and groundbreaking research in genomic medicine. Since its launch in 2016, this meeting has showcased the most impactful discoveries and large-scale initiatives shaping the future of healthcare—from national genomics strategies and international biobank efforts to hospital-driven diagnostic innovation and reimbursement models. Building on AGBT’s legacy of spotlighting transformative technologies and fostering public-private collaboration, the Precision Health Meeting emphasizes advances in clinical diagnostics, therapeutic development, and our growing understanding of genotype-phenotype relationships.   Some of the biggest names in genomics presented and we caught up with a few of them to capture their insights on the show to share with all of you. The Guests   Dr. Eric Green is the former director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times!    Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics, where she leads their clinical strategy and ensures the highest standards in genetic testing for patients across all ages, especially children with rare, undiagnosed genetic disorders. She is also the Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. As a board-certified pediatrician and clinical geneticist, she has spent her career at the intersection of improving patient care, scientific innovation, and genomic medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Stay tuned for a future episode where we dive deeper about RNAseq and other multi-omic approaches with Dr. Eng.    Marina Sirota is currently a Professor and the Acting Director at the Bakar Computational Health Sciences Institute at UCSF. Prior to that she has worked as a Senior Research Scientist at Pfizer where she focused on developing Precision Medicine strategies in drug discovery. She completed her PhD in Biomedical Informatics at Stanford University. Dr. Sirota’s research experience in translational bioinformatics spans nearly 20 years during which she has co-authored

Happy September and back-to-school season, going with this theme we are sharing an episode from a show in our Science Podcast Network, Gene Pool Media. The podcast is called Beyond The Thesis with Papa PhD. It’s hosted by the wonderful Dr. David Mendes and in this episode that you are about to hear he interviews me.    We recorded this three years ago, but as I was listening back to our conversation, I realized it was still relevant and timely with most, if not all, applications for genetic counseling and other graduate schools now open. We also chat about science communications and networking and other important aspects of a science career.    Over the years I’ve mentored dozens of applicants through this application process and enjoy being a part of their journeys where I can offer advice along the way. I thought it would be helpful to adapt this into a formal group so a couple years ago we launched a Patreon geared specifically towards DNA Today listeners who are going through the GC application process. So I’ll throw that in the show notes or you can go to Patreon.com/DNATodayPodcast if you want to join, especially for our monthly Zoom chats about applications.    As we mentioned above, this episode originally aired on Beyond The Thesis with Papa PhD, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Parálisis Cerebral Respuestas Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.   Episode Topics:  Grad School Application Best Practices: Insights into personal branding, networking, and navigating the application process for grad school. Science Communication's Role: How podcasting and other forms of science communication have influenced Kira Dineen's career as a genetic counselor. Networking and Personal Branding: The importance of networking and personal branding in building a career, especially when academic grades aren't stellar. Genetic Counseling Career Path: The educational requirements and career path for becoming a genetic counselor in the US and Canada. Communication Skills: The critical role of communication skills in both academic and professional settings, particularly in science-related fields. Informational Interviews: The value of conducting informational interviews to build connections and gain insights into potential career paths. Personal Statement Writing: Tips for crafting a compelling personal statement for grad school applications. DNA Today Relevant Episodes:  #87 Genetic Counseling Grad School Apps (Part 1)  #97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)  #101 Genetic Counseling Match Day  #193 Genetic Counseling Application Advice with GC Prep: Part 1  #194 Genetic Counseling Application Advice with GC Prep: Part 2 #245 Genetic Counseling Program Applications: Part 1 #246 Genetic Counseling Program Applications: Part 2 Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed

What does it really take to move the needle on health equity for rare diseases, especially on Capitol Hill? In this episode, we are joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC). Under her leadership, the coalition is tackling systemic inequities across the rare disease journey, from timely diagnosis to clinical trial access, treatment development, and sustained care. With partnerships across biotech, government, and patient advocacy groups, RDDC is reshaping the policy landscape to ensure historically underrepresented communities are not left behind. Right now we are capturing Jenifer’s insider perspective on advocacy strategies, legislative progress, and how every member of the rare disease community can engage in meaningful change.  Topics Covered in This Episode: Why the Rare Disease Diversity Coalition (RDDC) was created Unique health disparities impacting rare disease patients Barriers faced by black, brown, and LGBTQ+ communities in rare disease care Collaborations between advocacy organizations and biotech leaders like Amgen Legislative efforts, including RDDC’s HEARD (H.R.1750) health equity bill with Rep. Marilyn Strickland Strategies for engaging Congress and policymakers effectively How patients and families can prepare for Capitol Hill advocacy meetings Practical advice for advocates who feel powerless but want to get involved Long-term vision for advancing equity in rare disease research, care, and policy Resources:  Rare Disease Diversity Coalition (RDDC) WebsiteThe Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) H.R.1750 - HEARD Act of 2025 (Health Equity and Rare Disease Act of 2025)  The Tuskegee Syphilis Study   We Work For Health  Relevant DNA Today Episodes :  Amgen's Urea Cycle Disorder Series Part 1: #282 The Evolution of Caring for Females With OTC Deficiency Amgen's Urea Cycle Disorder Series Part 2: #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care Amgen's Urea Cycle Disorder Series Part 2: #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders   Connect with DNA Today: Shoutout to listener Grace Dougherty for recommending Jenifer Waldrop to be a guest on the show! Do you have someone you want to hear on DNA Today? Send a pitch to info@DNAtoday.com.  Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

What if we could ease the suffering of patients with undiagnosed or rare diseases? In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation. Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions.   Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey.    Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the  European Union of Medical Specialists (UEMS).  Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects. Topics include: The rare disease burden in Turkey and the impact of consanguinity Prevalence of dual or triple diagnoses in Turkey and the impact of tailoring treatment  Why exome and genome sequencing are replacing panel testing The diagnostic power of rapid WGS in NICUs Tools MGI offers to accelerate analysis and interpretation Making sequencing more accessible in low-resource settings The role of genomics in precision prescribing Opportunities to improve patient quality of life post-diagnosis What’s next for sequencing innovation and rare disease care Relevant Resources: DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar  The Undiagnosed Diseases Network (UDN) MGI’s Sequencing Platforms Dr. Serdar Ceylander’s INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center Connect With Us Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes. Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology. In this episode, we’ll explore: ✅ How pharmacogenomics (PGx) works and what results the test provides✅ How PGx testing prevents adverse drug reactions and improves treatment✅ Real-world examples of PGx in action✅ Challenges and future trends in integrating pharmacogenomics into healthcare✅ What patients should know before getting tested The Panel:  Kristy Bouvier started her career with Quest Diagnostics in 2014 as a Neurology Account Executive for the Boston North territory.  In this role she has over 8 years of experience in laboratory sales specializing in neurology and genetics. Currently Kristy serves as a product manager for U.S. Specialty genetics where she is responsible for the Quest genetics portfolio in rare diseases.  She currently manages the biochemical genetics, cytogenetics, pharmacogenomics, and whole exome product lines.   Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group.   Resources:  Quest’s New Pharmacogenomics Panel GeneReviews ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) DNA Today Episode #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) with Dr. Josiah Allen  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversations. Two inspiring and informative guests join the episode:  Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder.Will Mannherz is a MD-PhD Harvard Medical School student and co-author of multiple research papers exploring TBDs and emerging therapeutic strategies. Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery. Topics Covered in This Episode Jena shares the emotional and complex diagnostic odyssey for her daughter Rori that included multiple misdiagnoses.  Rori’s final correct diagnosis of Dyskeratosis Congenita, which is a telomere biology disorder.  What it’s like parenting a child with a rare, poorly understood condition. The role of Team Telomere in providing support, resources, and hope to families worldwide. Will explains the biology of telomeres, what goes wrong in TBDs, and how thymidine may help elongate telomeres. Importance of family health history in understanding TBD disorders Insights from recent research and what early findings suggest about future treatment potential. How researchers and families are coming together to accelerate progress in this ultra-rare disease space. The upcoming clinical trial starting Fall 2025 at Boston Children’s Hospital Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family. Memorable Quotes 🗨️ “We kept getting misdiagnoses... it was frustrating, but it also pushed us to keep looking until we found someone who understood telomere biology.” – Jena Robertson 🗨️ “It’s rare, but the impact is massive. Understanding telomere biology isn’t just about rare disorders—it’s about aging, cancer, and regenerative medicine.” – Will Mannherz, MD, PhD About Team Telomere Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families. Learn more and get involved here.  Relevant Resources  DNA Today Episode #93 Team Telomere featuring Dr. Suneet Argwal, Katie Stevens, and Dr. Sharen Savage  A Race for Rori: The Work of Dr. Suneet Agarwal (Video played at event) Team Telomere Team Telomere’s Profile on Rori Agarwal Lab (Drs. Suneet Agarwal, Will Mannherz, et. al. TBD research)  Fall 2025 Clinical Trial: Nucleoside Therapy in Patients With Telomere Biology Disorders Dyskeratosis Congenita Information via Boston Children’s Hospital “Playing the long game: An exciting discovery in telomere disease” Boston Children’s Hospital Article Referenced Research Articles Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on! Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2)

In this bold and wide-ranging conversation, Ian Wendt and Na-Ri Oh sit down with Andrew Craig—British investor, entrepreneur, and author—to explore how biotechnology is poised to shape the next century in the same way physics and computing shaped the last.   Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised more than 60 biotech companies and worked on marquee deals like the $7.6B sale of Nordia Bank and IPOs for brands like EasyJet and Burberry.   But his latest passion lies at the intersection of finance and innovation: making the case that our future is biotech, without a question mark.   This episode originally aired on RealPharma, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Parálisis Cerebral Respuestas Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network.   Topics Covered   Why biology will define the 21st century: Andrew outlines the structural and technological reasons biotech is primed for exponential impact. CRISPR, AI, and the "exponential stack": How data storage, ML, and sequencing speed make today's breakthroughs possible. Fixing Europe's biotech lag: The cultural, capital, and regulatory headwinds slowing biotech innovation in the UK and EU. Rebuilding trust in pharma: Why good actors in drug development don’t get headlines—and how that hurts innovation. From Oxford Biomedica to DNA-based storage: Vivid examples of tech cost reductions and where we're headed next. The case for optimism: How to resist the press's negative bias and invest in human progress—literally. Resources & Links 📘 Andrew’s latest book: Our Future is Biotech on Amazon 📕 His first bestseller: How to Own the World on Amazon 🌐 Plain English Finance: www.plainenglishfinance.com 🔗 Connect with Andrew on LinkedIn: linkedin.com/in/andrewcraigpef Memorable Quotes “The last century was about physics and tech. The next one will be about biology—and by extension, biotech.” “If success begets success, then a crop of billion-dollar biotech companies in Europe can kickstart a self-sustaining cycle of innovation and investment.” “People forget that the smartphone they hold was a $100 million science project in the 1990s. Biotech is heading the same direction.” “We need to fight the narrative that pharma is inherently bad. There are good actors, and we must do a better job telling those stories.” Key Takeaway Biotech isn't just a sector—it's a structural solution to some of humanity’s greatest problems. From disease treatment to environmental restoration, the converging forces of AI, genetics, and biological engineering make this the most consequential time in science since the industrial revolution. Connect With Us Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA

This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death.    This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   Survey for Monisha Sebastin's Global Genomics Services Directory We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services. We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey.  Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here.   The Actors:   Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles.    Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today.    Mock Cardiac Genetic Counseling Session Outline   Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached.    Patient’s Name: Lev Loveheart    Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, l

THIS IS PART TWO, go back and listen to Episode #345 for the first half of this conversation.    The co-founders of The Science Underground rejoin our host Kira Dineen for the second part of their conversation continued from Episode #345. This episode was also recorded in-person and discusses the importance of effective science communication in genetics and approaches to achieve this.    The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish.    Topics Discussed: The Importance of Effective Science Communication The Role of Humor and Pop Culture in Science Creativity in Science Communication Navigating Timeliness vs. Depth in Storytelling The Y Chromosome: Myths and Misconceptions Communicating Complex Genetics to Diverse Audiences Celebrating Scientific Achievements: The T2T Project The Importance of Teamwork in Big Science Learning from Communication Failures Effective Strategies for Science Communication Advice for Scientists on Public Engagement Engagement and Community Building   The Panel:   Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement—work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation.   Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space.   Resources/Links Mentioned: Kira Dineen’s Invited NIH Talk: “Mastering the Mic: Interview Strategies for Science Communicators” NHGRI’s Telomere-to-Telomere (T2T) NHGRI’s Pangenome Project NHGRI’s “How to Sequence a Human Genome in 7 'Easy' Steps!” Full Video TIME100: The Most Influential People of 2025 “The Complete Sequence of a Human Y Chromo

Bioethicist Dr. Madison Kilbride is interviewed by Sarah Lawrence College genetic counseling student Shaun Miller. This is part of Shaun’s internship with DNA Today.  At the University of Utah, Madison Kilbride is Assistant Professor of Philosophy specializing in bioethics. Her research focuses on ethical implications of genetic testing, particularly direct-to-consumer (DTC) genetic testing, genetic privacy, and family obligations around genetic information. Her work has been published in top journals, including Journal of American Medical Association, Journal of Clinical Oncology, Hastings Center Report, the American Journal of Bioethics, and the Journal of Medical Ethics. From the ethical limits of DTC genetic testing to the complexities of breaching confidentiality to warn at-risk relatives, in this episode Dr. Kilbride dives into some of the most pressing debates in modern medical ethics. In this conversation, we explore: Why Dr. Kilbride, a philosopher by training, was drawn to ethical issues in genetics How direct-to-consumer (DTC) genetic testing has evolved, and the “Goldilocks problem” of too-narrow vs. too-broad test panels What consumers misunderstand about the limitations of tests like 23andMe’s 3-variant BRCA screen Dr. Kilbride’s personal experience with a variant reclassification and the ethical duty of testing companies in communicating critical updates The “principle of rescue” as an ethical framework for when patients should share genetic results with family members Whether patients have a moral duty to get tested in the first place — particularly if family members might benefit Ethical implications of sharing information about non-Mendelian or multifactorial traits like autism or diabetes Pushback against the idea that genetic data is “inherently familial,” and why this philosophical distinction matters When (if ever) healthcare providers should breach patient confidentiality to warn relatives at risk of a genetic condition Ethical criteria for deciding whether breaching confidentiality is justified Why insurance companies should treat IVF with preimplantation genetic testing (PGT) as medically necessary How IVF-with-PGT compares to preventive care models like cancer screening Advice for genetic counselors navigating family disclosure and autonomy tensions Predictions for the future of genetic testing and what ethical frameworks need to evolve now Mentioned Articles by Dr. Kilbride: Dr. Kilbride shares insights from her recent peer-reviewed publications, highlighting the importance of balancing patient autonomy with broader familial and societal responsibilities in genetics. On the limits and need to improve DTC testing: "The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad" JAMA 2020 "Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests" JAMA Oncol 2018 "Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility" ASCO 2020 On the principle of rescue and duty to warn family members: "Genetic Privacy, Disease Prevention, and the Principle of Rescue" Hasting Cent Rep 2018 On breaching patient confidentiality under ethical conditions: "Breaching Confidentiality in Genetic and Non-Genetic Cases: Two Problematic Distinctions"  AJOB 2024 On expanding insurance coverage for IVF with PGT: “In vitro fertilisation with preimplantation genetic testing: the need for expanded insurance coverage" J Med Ethics 2020 Want to read even more from Dr. Kilbride? Search her full list of publications on PubMed here. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been

Prenatal screening has transformed over the past decade, with Non-Invasive Prenatal Testing, or NIPT, becoming a go-to tool for early risk assessment. But even as adoption increases globally, we’re still facing real gaps, from limited condition coverage to a lack of support in interpreting results.   On this episode, I’m joined by Dr. Fred Ushakov, a renowned fetal medicine expert based in London. We are going to explore how NIPT is evolving and how a next-generation screening tool like Fulgent’s KNOVA is pushing the boundaries of early detection.    We’ll also dive into how structural scans and single-gene conditions factor into smarter screening strategies, and what patients and providers alike need to know when choosing the right test.    What We Cover in This Episode: The current state of NIPT access and adoption in the UK (public vs. private healthcare) Clinical blind spots in traditional NIPT; and how they impact patients How KNOVA is expanding prenatal screening with 56 genes, associated with 30+ monogenic conditions Why structural ultrasound and NIPT are complementary tools, not replacements How the SMART Test® NIPT algorithm enhances precision and timing of risk detection Early detectable conditions on KNOVA (e.g., Noonan syndrome, skeletal dysplasias) Conditions not typically visible on ultrasound (e.g., Rett syndrome, CHARGE) What providers and patients should know when considering an expanded NIPT Dr. Ushakov’s insights on the future of prenatal screening innovation We want to thank Fulgent for sponsoring this episode. All of our episodes, including this one, are for informational purposes only and do not constitute medical advice. Please consult a healthcare provider for personalized guidance. KNOVA is a screening test and not diagnostic. All results should be confirmed with diagnostic testing and interpreted with the support of a healthcare provider like a genetic counselor.   More on Our Guest:Dr. Fred Ushakov is the Founder and Managing Director of London Pregnancy Clinic (formerly City Ultrasound.) He has more than 35 years’ medical professional experience and was working in obstetrics and gynaecology, fetal medicine and ultrasound. In the UK Fred is working in Fetal Medicine and specialising in Fetal Anomalies. He also works at the UCLH Fetal Medicine Unit, having gained recognition as the most skilled ultrasound operator. Dr. Ushakov founded the London School of Ultrasound, where he has lectured doctors and sonographers from more than 100 countries. He founded the Early Fetal Scan Conference, a scientific event that seeks to raise awareness among professionals to recognise and manage different fetal abnormalities at earliest stages of gestation. Furthermore, Dr. Ushakov served as an Ambassador of the International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG) in 2014-2020. He has a particular interest in the training and support of doctors and sonographers in other countries to help them to protect and preserve the health of mothers and unborn babies. Dr. Fred Ushakov is graciously donating his time to be a guest on the show to share his authentic experience with KNOVA and is not a paid consultant by Fulgent.    Relevant or Referenced Links: Dr. Fred Ushakov’s London Pregnancy Clinic  Fulgent’s KNOVA NIPT The SMART Test® NIPT  DNA Today Episode #317 Prenatal Mock Genetic Counseling Session   Get ready, genetic nerds—another brand-new episode of DNA Today drops on Friday! You can always count on us to deliver fresh content every Friday.    While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!    DNA Today is hosted and produced by Kira Dineen, MS,

To celebrate the end of Pride month, we are sharing this episode of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen.  The current rise in structural hostility towards transgender and gender diverse individuals highlights the importance of appropriate and affirming care for this medically marginalized community. In cancer genetics, specific factors such as medical transition and psychosocial impacts alter the approach to, and requirements of, genetic counseling for trans patients. To support the unique needs of trans and gender diverse patients in hereditary cancer genetic counseling, this episode of the PhenoTips Speakers series features an international panel of cancer genetic counselors with advocacy and research specialties in inclusive genetic counseling practices for LGBTQ+ patients. The PhenoTips Speaker Series is one of many podcasts in our brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Two brand new shows debuting later this year  If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network.   On This Episode We Discuss: Risk considerations for trans and gender diverse cancer genetic counseling patients Creating safe and inclusive environments in cancer genetic counseling Protecting patients during times of unprecedented legislation Resources and methods to support trans and gender diverse patients   The Panel:  Kimberly Zayhowski, MS, CGC (she/her), is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine and was one of the inaugural research fellows in the GC-FIRST program at the University of Minnesota. Her research focuses on LGBTQIA+ care, and specifically, the intersection of gender-affirming care and cancer genetics, with an emphasis on community-engaged research to improve clinical practices. Kim was awarded the Jane Engelberg Memorial Fellowship for her work in this area. She also serves on the Editorial Board for the Journal of Genetic Counseling as a Deputy Editor and a Director of Diversity, Equity, and Inclusion Integration. In recognition of her contributions to the field, she received the AGCPD Outstanding Clinical Supervisor Award in 2021 and the NSGC Leader in Cultural Advocacy Award in 2022.   Josephine Giblin (she/her/hers) is an NHS genetic counsellor working in Bristol, in the South West of England with an interest in barriers that LGBTQIA+ patients face in accessing genetics care. In the last few years, she has been particularly focused on trans and gender diverse patients with inherited cancer predisposition, leading a project to better equip genetics services to meet the needs of these patients. Recently Josephine worked with the UK Cancer Genetics Group to develop the first UK recommendations for the management of trans and gender diverse patients with inherited cancer risks.   Diane Koeller (she/her/hers) is a senior genetic counselor in the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute in Boston, MA. She completed her MS in Genetic Counseling and MPH in Health Behavior and Health Education at the University of Michigan in Ann Arbor in 2016. She provides clinical genetic counseling for individuals and families with hereditary cancer risks. Diane collaborates on research studies in a variety of areas including hereditary lung cancer, LG

We’re kicking off Season 2 of #ThroughTheGenes with a powerful and personal episode in honor of World Sickle Cell Day, which was commemorated yesterday on June 19th.   This podcast isn’t just about science, it’s about storytelling through the lens of lived experience. Hosted by three uniquely different women who have experience with transformative therapies for sickle cell disease, this season celebrates the sisterhood they’ve built through vulnerability, advocacy, and the desire to push the conversation forward. If you’ve been following along, you’ll remember Episodes #288 and #289 of DNA Today, where our host Kira Dineen sat down with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease symptoms. Her story is one of remarkable resilience and groundbreaking science. Then on Episode #305, she also spoke with the original co-hosts of #ThroughTheGenes, Wunmi Bakare and Dima Hendricks, two powerful patient advocates whose insight, honesty, and unwavering commitment have helped shape how we understand cell and gene-based therapies for sickle cell today. This Season 2 opener sets the tone for what’s ahead. It’s a raw and reflective conversation that unpacks the triumphs and trials of transformative care, while shining a light on the emotional weight of medical decision-making. Through three distinct journeys, we find one undeniable truth: the power of shared experience can create bonds that feel like family, and fuel advocacy that moves scientific storytelling forward.   We’re also thrilled to share that #ThroughTheGenes is part of our new science podcast network: Gene Pool Media! We're building a home for engaging, credible, and diverse science storytelling. Check out our growing lineup of shows:DNA Dialogues Demystifying Genetics RealPharma Beyond The Thesis with Papa PhD It Happened To Me All Access DNA PhenoTips Speaker Series ...and two brand-new shows launching later this year! If you host a science podcast and want to be part of a collaborative network that amplifies your voice, go to GenePoolMedia.com and click the “Apply” tab, or just shoot me an email at kira@genepoolmedia.com. We’d love to chat with you about what we’re building. In this season 2 premiere of #ThroughTheGenes, hosts Wunmi Bakare, Dima Hendricks, and Christelle Salomon engage in a heartfelt discussion about their personal journeys with sickle cell disease and the transformative therapies they have explored. They share their motivations for seeking experimental treatments, the emotional and physical challenges they faced, and the importance of mental health and self-care. The conversation highlights the resilience of sickle cell warriors and the impact of their experiences on their identities. The episode concludes with a light-hearted quickfire round, reinforcing the bond among the speakers and their commitment to patient advocacy.    Takeaways Conversation kicks off with an authentic conversation about cell and gene-based therapies.  Dima shares her journey with sickle cell and the challenges faced during her treatment. Christelle discusses her motivations for exploring gene therapy and the impact on her life. The importance of mental health and self-care is emphasized throughout the conversation. Each speaker shares their unique experiences with transformative therapies, highlighting both triumphs and trials. The discussion reveals the emotional and physical challenges faced during treatment processes. The concept of freedom is explored as a central theme in navigating life with sickle cell disease. The speakers reflect on their identities as sickle cell warriors and the ongoing journey of living with the condition. The conversation addresses misconceptions about gene therapy and the realities of patient experiences. The podcast concludes with a light-hearted quickfire round, reinforcing the bond among the speakers. Subscribe to #ThroughTheGenes on Apple, Spotify, YouTube or wherever you listen to podcasts. Next e

The co-founders of The Science Underground join our host Kira Dineen for an in-person episode to discuss the importance of effective science communication in genetics and approaches to achieve this.  The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish.    Topics Discussed: Strategies for making complex genetics concepts accessible to the public The role of humor, memes, and social media in building engagement and trust Challenges of communicating abstract genetic topics and foundational genomics knowledge Reflections on progress in public genomic literacy since the Human Genome Project Disparities in genetics understanding across different socioeconomic and educational backgrounds The critical role of storytelling in science communication Using creative media to preemptively address misconceptions Building public trust in genetics by acknowledging historical injustices and systemic biases Importance of transparency, community collaboration, and ethical considerations in genomic research Engaging underrepresented and Indigenous communities in genetic research conversations Evolving role of research participants: from subjects to true partners in science Cultural sensitivity around ancestral DNA and the emotional weight it carries The misconception that complex science can't be simplified for broader audiences Practical advice for scientists: use analogies, creativity, and empathy to communicate effectively   The Panel:   Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement—work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English.   Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation.   Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in

We wanted to let you know of a live podcast episode of the PhenoTips Speakers Series happening soon on June 18th, 2025 at 12pmEST. We do an annual pride installment, this year we are exploring Gender Affirming Cancer Genetic Counseling. Sign up here so you can tune in and ask your questions live to host Kira Dineen and the impressive panel we have lined up.   Have you heard? I launched a brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  Two brand new shows debuting this year    If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com. I’d love to chat with you about the benefits of joining the network.   Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network. This week we are sharing a segment from a recent episode (#15) of DNA Dialogues, which is the official podcast of the Journal of Genetic Counseling. Our host Kira Dineen, was lucky enough to be on the team that launched the show last year. Here’s what is unique about this show, each episode of this podcast two papers from the journal are highlighted through interviews with the authors themselves. We picked this segment to share in honor of Pride month as it explores the paper “Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study”.    The two authors of the study join for this interview: Jaime Schechner and Darius Haghighat.    Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center.   Darius Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity.   In this segment Kate, Darius, and Jaime discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices.   Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.   Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.  Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues’ team inc

What would you do if your child was diagnosed with a terminal genetic condition, and the only hope for survival required raising $2.2 million?   In this deeply moving episode of DNA Today, we’re joined by Joe Jackson, a rare disease advocate and father of 7-year-old William, who lives with Duchenne Muscular Dystrophy (DMD), a rare, progressive genetic disorder that leads to muscle degeneration and shortened life expectancy.   But William’s story stands apart. Due to a rare duplication mutation in the DMD gene, existing treatments aren’t an option. So Joe and his wife Kati are doing something extraordinary: working with Cure Rare Disease to develop a personalized CRISPR gene-editing therapy that could become the first of its kind in the United States; and possibly save William’s life.   In this conversation, Joe opens up about the emotional toll of a devastating diagnosis, the scientific promise of genome editing, and the urgent, grassroots efforts it takes to fund a first-in-human therapy when time is running out. Episode Topics Include: What it’s like to receive a diagnosis of Duchenne Muscular Dystrophy How William’s rare mutation excludes him from all existing treatments The role of Cure Rare Disease in accelerating gene therapy development How CRISPR could eliminate William’s genetic duplication The emotional moment Joe saw rodent models with William’s mutation fully recover after CRISPR Why personalized gene therapies like this one can cost $2.2 million+ What comes next once the fundraising goal is met The ripple effect: how William’s treatment could pave the way for other forms of DMD How Joe raised awareness by rowing 157 miles of the Rogue River in just 24 hours What the recent breakthroughs in personalized CRISPR therapies mean for the future of rare disease   Resources: At the beginning of the episode, the Host Kira Dineen couldn’t remember what percentage of cases of DMD are random/de novo, it’s 33% according to this study. Two DNA Today episodes were referenced: #156 Rich Horgan on Duchenne Muscular Dystrophy (Cure Rare Diseases Founder) #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Towards the end of the interview Joe mentioned a brand new 8-minute video sharing about the “We Row For William” adventure, watch it here. About the Guest: Joe Jackson is a father, rare disease advocate, and fundraiser whose youngest son, William, is battling Duchenne Muscular Dystrophy. With support from Cure Rare Disease, Joe and his wife are working to develop a custom CRISPR-based gene editing therapy tailored to William’s exact mutation. His story was recently featured on CNN’s website and Instagram here. Joe continues to inspire families around the world with his passion, creativity, and determination to save his son’s life. How You Can Help: To support William’s custom gene therapy and learn more about Duchenne visit WeWillForWilliam.org. Every donation brings William one step closer to a groundbreaking treatment, and helps advance the future of genetic medicine. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, You

What would you do if you won $10 million?  For Jeff and Jennifer Allen, the answer was simple: fund research to find a cure for their son’s rare genetic condition.  In this episode of DNA Today, we’re joined by Jeff and Jen Allen; Jeff is known to over 100 million YouTube viewers as Player 831, the winner of MrBeast’s high-stakes reality series Beast Games—and the recipient of the largest game show prize in history: $10 MILLION. Alongside him is his wife, Jennifer Allen, who has been an equal partner in their advocacy journey every step of the way.  But the Allens aren’t spending that money on luxury vacations or dream homes. Their mission is far bigger—and far more urgent. Their youngest son, Lucas, lives with Creatine Transporter Deficiency (CTD), a rare and devastating genetic disorder that impairs brain and muscle function. With fewer than 400 known cases worldwide and no approved treatments, CTD is under-recognized and underfunded. Jeff applied to Beast Games with one goal: raise awareness and secure funding to accelerate research. Against all odds, he won—and now, he and Jen are investing in the future of CTD research and other families like theirs. In this episode, Jeff and Jen share their incredible journey—from the intensity of Beast Games to the emotional impact of Lucas’s diagnosis, and how they’re using their platform and prize money to drive life-changing research.  Episode Topics Include: Behind-the-scenes stories from Jeff’s experience on Beast Games Jen’s perspective watching Jeff compete and staying grounded in their family’s mission What it was like for their son Jack to visit Jeff during filming and serve as his “coach” Why Jeff turned down offers of $1 million+ to stay in the game The emotional moment Jeff dedicated his final win to Lucas What Creatine Transporter Deficiency (CTD) is and how it affects Lucas The current research status and the massive funding gap for CTD How the Allens plan to use the $10 million prize to support research and gene therapy development Hope on the horizon: breaking news of the personalized CRISPR therapy and what this could mean for CTD The couple’s involvement with the Association for Creatine Deficiencies and broader advocacy work Advice for newly diagnosed families navigating rare diseases like CTD About the Guests: Jeffrey Randall Allen, known as Player 831, made history as the winner of the inaugural season of Beast Games, the high-stakes reality competition series created by YouTube sensation MrBeast (Jimmy Donaldson). In the show's dramatic finale, Allen secured a record-breaking $10 million prize—the largest in game show history—by correctly selecting the winning briefcase in a tense final game of chance .   His advocacy efforts are deeply personal. Allen's youngest son, Lucas, was diagnosed with Creatine Transporter Deficiency (CTD), a rare genetic disorder affecting brain and muscle function.  With less than 400 cases diagnosed world wide, CTD has no known treatment, prompting Allen to raise awareness and fund research through his involvement with the Association for Creatine Deficiencies.   Allen applied to Beast Games with the primary goal of using the platform to raise awareness for CTD. Despite offers of up to $1 million to leave the competition early, he remained steadfast, ultimately winning the $10 million prize. He plans to use the funds to support clinical trials and research aimed at finding a treatment for CTD, which is estimated to require between $30 million and $40 million to develop.    Allen resides in the Bay Area with his wife, Jennifer, and their two sons, Jack and Lucas. Through his historic win on Beast Games, Jeffrey Randall Allen has not only changed his family’s life but also brought global attention to the fight against rare diseases—turning a personal struggle into a powerful mission for change.    Resources: Andrew Huberman on Creatine  “Single dose creatine improves cognitive performance and induces changes in cerebral high

In honor of ALS awareness month, we are joined by Debbie Lower. She is a remarkable advocate, educator, and caregiver whose family has been deeply impacted by ALS. Over the last three decades, Debbie has lost seven family members to ALS and frontotemporal dementia (FTD), many of whom carried the C9orf72 gene mutation. From caregiving for her mother to mentoring other families and advocating for research funding, Debbie has turned unimaginable loss into powerful action. Today we’ll dive into the genetics of ALS, the current landscape of research and drug development, and how Debbie continues to support families navigating the emotional and genetic complexities of this disease.   Episode Topics Include: How ALS and FTD unfolded in Debbie’s family over multiple generations The impact of receiving a negative genetic test result for C9orf72 What the C9orf72 repeat expansion means for familial ALS and FTD Other genes linked to ALS and how genetic testing is evolving The emotional and psychological complexities of genetic diagnoses The difference between familial and sporadic ALS Promising clinical trials and research efforts in genetic ALS How advocacy and mentorship empower families facing these rare diseases Debbie’s advice for newly diagnosed families navigating ALS or FTD   Resources Mentioned in Episode:  I Am ALS Organization  The ALL ALS PREVENT Study  The ALL ALS ASSESS Study  HEALEY ALS Platform Trial End The Legacy Organization   Team Gleason Foundation (specifically their tech like controlling wheelchairs with eye gaze) I'm Dying To Tell You Podcast  Go On, Be Brave Documentary  Tofersen drug reversing some people’s symptoms (In 2023 the FDA approved it to treat SOD1-ALS)  “Artificial intelligence empowered voice generation for amyotrophic lateral sclerosis patients” Regondi et. al 2025 Nature Paper “Evidence-based consensus guidelines for ALS genetic testing and counseling” Roggenbuck et. al 2023, Annals of Clinical and Translational Neurology Paper “Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD” Benatar et. al. 2025, J Neurol Neurosurg Psychiatry Paper    At the end of the episode, host Kira Dineen has a heartfelt thank you to one of her mentors who has ALS, Doug Campbell. He has been and continues to be instrumental in the development of the DNA Today brand and business.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

I launched a brand new science podcast network called Gene Pool Media, two weeks ago on DNA Day, April 25th. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including…   RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality.    Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now!    If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com.    In this episode drop of Demystifying Genetics where I was actually a guest. This podcast is hosted by an Australian genetic counselor Dr. Matt Burgess. Matt interviews me about my journey as a high school starting this genetics podcast from my childhood bedroom to becoming a genetic counselor and now multi-award winning podcast. The conversation explores the nuances of genetic counseling, the impact of technology like CRISPR, and the unexpected connections that shape careers in genetics. Matt was also a guest way back in 2020 on Episode #114 on DNA Today when I was still a grad student.    Episode Topics:    Kira discusses her personal journey into genetic counseling  Emphasises the balance between technical skills and patient care  Addresses common misconceptions about the emotional weight of the profession  Shares insights into the groundbreaking use of CRISPR technology  Highlights the importance of podcasting in enhancing professional growth  Explores the unexpected recognition from Kourtney Kardashian’s blog    Any inquiries for Demystifying Genetics podcast can be through Matt’s LinkedIn.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

A week ago on DNA Day, April 25th, I launched a brand new science podcast network called Gene Pool Media. The response has been amazing, so thank you to everyone who has been supportive, especially the podcasts that have joined the network including… RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series  All Access DNA Two brand new shows debuting this year: one in the rare disease space and another exploring the intersection of health science, religion, and spirituality.  And All Access DNA, which you are about to hear one of their recent episodes. I figured that would be a perfect way to celebrate the launch of Gene Pool Media.    Over the years we have shared episodes of DNA Dialogues, It Happened To Me and PhenoTips Speaker Series. And we had the hosts of #ThroughTheGenes and Demystifying Genetics on the show. And I’ve been a guest on RealPharma. So these are all podcasts that were already in our circle, it’s just more official now!    If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at kira@genepoolmedia.com.    In this episode drop of All Access DNA you will hear from genetic counselor Sarah Bannon, who discusses the complexities of inherited blood cancers, particularly leukemia. The host of All Access DNA is Kate Wilson; who will sound familiar as she is a co-host on the journal of genetic counseling’s podcast, DNA Dialogues and a podcast from the National Society of Genetic Counselors.    In this conversation, Sarah Bannon discusses the complexities of inherited blood cancers, particularly leukemia, and the evolving role of genetic counseling in understanding and managing these conditions. She highlights the historical context of genetic research in blood cancers, the importance of family history in assessing risk, and the advancements in genetic testing that have led to better identification of hereditary cancer syndromes. The conversation also covers the implications of genetic testing results for patients and their families, the challenges faced in the field, and the rewarding aspects of working in this emerging area of genetic counseling.   On This Episode We Discuss: What inherited blood cancers are and how they may run in families There are many known genes linked to hereditary blood cancers How genetic testing can help monitor family members for early signs of cancer. The role of clinical trials to explore preventative treatments for those at risk.   Sarah is a genetic counselor with over 14 years of experience in cancer genetics, specifically leukemia and lymphoma. She is a widely sought expert on hereditary predispositions to hematologic malignancy, which has been the focus of her clinical care and research. Sarah works as a genetic counselor at the National Institute of Allergy and Infectious Diseases (NIAID).   Here are more resources related to today’s topic, blood and bone marrow cancers: National Marrow Donor Program and Be The Match Leukemia and Lymphoma Society Clinicaltrials.gov tracks all clinical trials available in the US Team Telomere - A Community for Telomere Biology Disorders RUNX1 Research Program Findageneticcounselor.org to find a genetic counselor near you   Any inquiries for All Access DNA podcast can be sent to AllAccessDNA@gmail.com. Note that this podcast is for entertainment and education and is not intended to be a substitute for professional medical advice. Please consult your physician with any questions you may have regarding your health. The All Access DNA team includes: host, producer and editor Kate Wilson. The logo is designed by Designs by NKJ.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? B

Urea cycle disorders (UCDs) are rare inborn errors of metabolism (IEMs) caused by enzyme or transporter deficiencies in the urea cycle, which is responsible for protein metabolism. These conditions can present at any age with acute, chronic, and intermittent symptoms of hyperammonemia. The first UCD was described over 50 years ago and while many “unknowns” about UCDs still remain, the way we think about and treat these conditions today is evolving. In this second episode of a series focused on the evolution of UCD management, we discuss social determinants of health (SDOH) and how they impact patients with UCDs, examine the psychosocial burden of living with a chronic condition, and highlight how the multidisciplinary metabolic team can help patients and families overcome barriers to UCD management. Kendra J. Bjoraker, PhD, LP, is a pediatric neuropsychologist who specializes in rare genetic conditions. She served as faculty at the University of Minnesota and Children’s Hospital Colorado/University of Colorado and operates a dedicated practice, Bjoraker Neuropsychology Consultants, PLLC. Dr Bjoraker’s mission is to help identify and address psychosocial issues in patients with rare disorders in order to alleviate stressors associated with living with chronic conditions. Erika R. Vucko, APRN-NP, FNP, is a metabolic nurse practitioner at Ann & Robert H. Lurie Children’s Hospital of Chicago and faculty at the Northwestern University Feinberg School of Medicine. She is also the PKU Clinic Director at Lurie Children’s, co-created APRN metabolic follow-up clinic for patients with IEMs, and acts as a principal investigator for multiple clinical trials. She has provided clinical care for many patients with UCDs, among other genetic conditions. Her clinical interests include metabolic research, newborn screening, and lysosomal storage disorders. On This Episode, We Discuss: How socioeconomic and psychosocial factors impact a patient’s ability to engage in their UCD management Best practices and opportunities for multidisciplinary metabolic clinicians to support the care of patients with UCDs and their families Available resources to help patients navigate SDOH and mental health barriers to UCD management Related Episodes: Episode #323: Supporting Ongoing Urea Cycle Disorder (UCD) CareA discussion about how clinicians can better engage patients in their own care to help them sustain their daily UCD management needs   Episode #282: The Evolution of Caring for Females With OTC DeficiencyA conversation about ornithine transcarbamylase (OTC) deficiency, the most commonUCD, and how care for symptomatic heterozygous females has evolved over time   Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! Youcan always count on us to deliver fresh content every Friday.    While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”   Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios.Check them out on our YouTube channel!    DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our VideoLead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. This episode issponsored by AMGEN.   See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.   USA-RABU-80050 04/25

Submitting a research paper for publication can be an overwhelming process, especially for early-career researchers. How do you choose the right journal? What are editors really looking for? And how can you improve your chances of acceptance?    To answer these questions and more we are joined by two editors from Wiley’s Advanced Portfolio. Dr. Lei Lei is a Senior Manager of Wiley’s Advanced Portfolio and Deputy Editor of Advanced Science. Dr. Alanna Gannon is Deputy Editor of Advanced Science and Advanced Healthcare Materials.    They both share insider tips on navigating the peer review process, selecting the best journal for your work, and setting yourself up for publishing success, whether you’re submitting your first paper or your tenth.   On This Episode We Discuss: How to choose the right journal for your research What editors look for when screening submissions Red flags that can lead to rejection Tips for writing effective cover letters and response letters to reviewers The benefits (and challenges) of open-access publishing  How AI tools like ChatGPT are already influencing the writing and reviewing process Current trends in genetics publishing and where the field is headed   Resources:  Wiley Advanced Portfolio  Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection  Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life  Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.    While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”   Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!    DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

It’s an in-person episode! On Sarah Lawrence College’s campus, host Kira Dineen interviews former classmate Carli Andrews, MS, CGC. We explore the evolving landscape of continuing education for genetic counselors.    Carli joins us to discuss GC+ Academy, an innovative educational initiative designed to enhance professional skills and provide continuing education units (CEUs) for genetic counselors. She shares insights into the academy’s unique learning model, which integrates real-world applications, case-based learning, and flexible course structures to accommodate busy professionals. We also explore how GC+ Academy is addressing crucial gaps in genomic education by offering courses in personalized healthcare, business mindsets, systems theory, and communication strategies.   Tune in to gain valuable insights into how genetic counselors can apply systems thinking to healthcare, understand the business side of their profession, and prepare for the future of precision medicine. Carli also highlights the importance of communication training in bridging the gap between genetic counseling and the broader healthcare community. Learn how GC+ Academy is transforming continuing education for genetic counselors and how you can take advantage of this cutting-edge learning platform!   The Institute for Genomics Education, Workforce & Leadership has generously provided a discount to all DNA Today listeners! Use our code “DNATODAY” for a 20% discount on all GC+ Academy courses and learning paths. In truly generosity, the code doesn’t expire, because we should always be learning!    Topics Covered in This Episode: The inspiration behind GC+ Academy and the need it fills in genetic counseling education How GC+ Academy differs from traditional CEU programs The benefits of flexible, self-paced learning paths Why understanding healthcare systems is crucial for genetic counselors The growing importance of business and financial knowledge in genetic counseling The role of communication training in genomic medicine The future of continuing education in genetic counseling   The Guest  Carli Andrews, MS, CGC. is a board-certified genetic counselor and an alumna of Sarah Lawrence College (MS ‘19). She has a rich background in both clinical and industry settings. Andrews is dedicated to making genomic information accessible and impactful for diverse populations in her role as Head of Program Development for the Institute for Genomics Education, Workforce & Leadership. Carli's most recent role prior to joining the Institute was as a medical science liaison where she excelled in providing scientific and clinical expertise, supporting multiple teams including commercial operations and medical affairs, and engaging with the genetics community at national conferences. Carli views her role at the Institute as a pivotal opportunity to drive forward the mission of advancing precision medicine through genomics education and workforce development. Coming into this role at a crucial time, she is actively involved in creating innovative educational programs designed to equip the current and next generation of genomic professionals with the skills and knowledge needed to excel in the evolving landscape of healthcare. Carli earned her MS in Human Genetics from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and her BS in Molecular Biology, Biochemistry, and Bioinformatics from Towson University.   Resources  20% discount on all GC+ Academy courses and learning paths by using code “DNATODAY”  Institute for Genomics Education, Workforce & Leadership   GC+ Academy  Personalized Healthcare Learning Path JOGC Article: Authentic professional learning between genetic counselor educators Contact: GenomicsInstitute@sarahlawrence.edu  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into

This conversation is a follow-up to Episode #326: How DNA Solves Crimes – The Forensic Science Behind True Crime, where we explored the role of DNA in forensic investigations including the infamous O.J. Simpson case. Dr. Henry Erlich returns to the show to talk about human ancestry and evolution.  Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His work has helped us trace human origins, understand genetic diversity, and uncover how DNA links us to Neanderthals and Denisovans. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute.  Topics Covered in This Episode: How PCR revolutionized genetic research and our understanding of evolution What genetic diversity within African populations tells us about human origins Debunking myths about Mitochondrial Eve and human ancestry The genetic connections between humans, Neanderthals, and Denisovans How ancient DNA from medieval bones reshapes what we know about genetic bottlenecks Insights from the Pangenome Project and its potential to improve our understanding of genetic variation Relevant Episodes:  #326: How DNA Solves Crimes – The Forensic Science Behind True Crime (First Episode with Dr. Henry Erlich) #216 African American Ancestry with Nicka Smith #117 Dr. Janina Jeff on African Genomes #251 Diversifying Genetic Research with 23andMe (Explores African American Sequencing Project) #182 Dr. Eric Green on the Complete Human Genome Project and Pan Genome Project Resources and Links: Read Genetic Reconstruction of the Past by Dr. Henry Erlich Explore the National DNA Index System (NDIS) and CODIS The Innocence Project: Fighting wrongful convictions with DNA evidence GEDmatch and its role in forensic investigations Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

To recap the American College of Medical Genetics (ACMG) held in Los Angeles, host Kira Dineen is joined by Karl Krahn. The conference ended Saturday so instead of waiting until Friday to share this episode we released it early.    Through this conversation, Kira and Karl reflect on their first attendance at the ACMG conference. They share insights on the sessions and events they attended, highlighting the engaging discussions and expert panels that made the conference memorable. Kira gives shout outs to a bunch of listeners she met during the conference, so tune in to see if she mentioned your name!    Karl Krahn is a genetic counselor who serves as a Clinical Analyst doing variant curations for exams and genomes at a genetic testing lab. Karl and Kira met as classmates at Sarah Lawrence College and graduated together in 2020. This is Karl Krahn’s return appearance on DNA Today, his first episode was six years ago on Episode #101 where we celebrated Match Day by providing advice on starting genetic counseling grad school.  Sessions Highlighted: 2025 ACMG Foundation Awards and Presidential Plenary Session - Genetics in the Media - Entertainment, Public Entertainment, Public Education, Controversies and Ethical Dilemmas Challenge The Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns) Diagnostic Dilemmas from the Undiagnosed Diseases Network  Genetic Counseling Forum: Sexual and Reproductive Health Counseling for Individuals with Intellectual Disability  The ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification  Navigating the Current Landscape in Prenatal Genetics - Coverage, Politics and Laboratory Practice  Latest Updates in Infertility Care IVF, PGT, and Alabama Advocacy   Takeaways The ACMG conference provided valuable insights for various genetic professionals including genetic counselors  The opening session set a positive tone for the conference Networking with peers and listeners was a rewarding experience Healthy snacks and beverages contributed to a welcoming atmosphere. The 'Challenge the Experts' session was particularly engaging and humorous where geneticists showcased the thought processes of leading professionals in genetics. The importance of addressing current political issues in genetics  Sexual health education is essential for individuals with intellectual disabilities and genetic counselors are well positioned to introduce these topics and resources.  Updates to ACMG criteria aim to clarify variant classifications Legislation can significantly impact infertility care and patient access Stigma surrounding infertility remains a challenge in healthcare   Resources Mentioned Laura Hercher’s DNA Today episodes #284 IVF in Alabama #191 Overturn of Roe #157 Texas’ SB8 Recent national genetic conference recaps: NSGC 2024 and ASHG 2024  Sexual and reproductive health resources for people with intellectual disabilities    We are already looking forward to ACMG 2026 in Baltimore, and coincidentally the 2026 National Society of Genetic Counselors (NSGC) annual conference will also take place in Baltimore. It’s worth pointing out that the next NSGC conference is November 2025 in Seattle. And Kira misspoke, the next national genetics conference she will attend will be the American Society of Human Genetics (ASHG) which will be in Boston this Fall. See you all there!    Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS,

To celebrate World Down Syndrome Day (which is today March 21st, 2025) our host Kira Dineen sits down with Carissa Carroll, the founder of Jack’s Basket, a nonprofit dedicated to celebrating babies with Down syndrome and supporting their families. Inspired by her son Jack, Carissa launched Jack’s Basket to provide new parents with resources, encouragement, and community connections. In this heartfelt conversation, we explore: The power of celebrating every baby with Down syndrome How healthcare providers can deliver a diagnosis with compassion The essential resources and support networks available for families The profound impact of Jack’s Basket worldwide The role of education and awareness in fostering inclusion Whether you’re a healthcare professional, a parent, or an advocate, this episode sheds light on the importance of positive, informed communication and the life-changing support of community organizations like Jack’s Basket. About Our Guest: Carissa Carroll is an alumna of Bethel University and the University of Minnesota. She taught at elementary and collegiate levels before a sweet baby boy named Jack changed her heart and passion. After an abrupt and assumptive diagnosis experience, Carissa felt led to start Jack’s Basket. She wanted to make a change for future parents, ensuring that they felt their child was a reason to celebrate and have opportunities to connect within the community. Carissa presents to medical professionals about how to deliver the diagnosis without bias, works with the Jack’s Basket board to further the mission, and connects with volunteers who deliver baskets.   Jack’s Basket Resources: Request a Basket Genetic Counseling Webinar: "Communicating Unexpected News"   Other DNA Today Episodes About Down Syndrome:  #176 Glee's Lauren Potter on Down Syndrome Awareness #280 Celebrating Down Syndrome with Parent & Nurse Jenness Stock Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This week we attended the 2025 Connecticut Rare Disease Forum organized by BioCT and held at the beautiful Jackson Laboratory. This afternoon was filled with industry-led discussions on innovation in rare disease diagnostics and treatments, along with the promising impact of these advancements on patient outcomes.   After the events wrapped, I caught up with Pamela Gavin, who serves as the President and CEO of the National Organization for Rare Disorders (NORD). She was on the panel, “Bringing Science to the Patient: Moving Upstream Toward Durable Response and Cures.”   This in-person conversation explores the vital role of patient advocacy organizations, particularly NORD, in supporting individuals with rare diseases. It discusses the evolution of patient advocacy, the importance of genetic testing, and the need for a robust workforce in genetic counseling. We emphasize the significance of building effective organizations and learning from successful models to enhance the impact on rare disease communities.   Takeaways NORD serves as a safe, trusted place for people to connect regarding rare diseases. Patient advocacy organizations play a crucial role in drug development and research. The landscape of patient advocacy has evolved significantly in recent years. Building effective rare disease organizations requires understanding best practices and community needs. Learning from successful organizations can help new groups avoid common pitfalls. Genetic testing is becoming increasingly important in diagnosing rare diseases. The future of genetic counseling faces challenges due to increasing diagnoses and limited workforce. Engaging the next generation in genetics is essential for the future of healthcare. Collaboration and communication within the rare disease community can lead to better outcomes. Advocacy organizations must adapt to the rapid advancements in genetic technology and testing.   Our Guest   Pamela Gavin was appointed chief executive officer of the National Organization for Rare Disorders (NORD®) in May 2024, becoming the third CEO in the organization’s 42-year history. Gavin’s deep connection to the rare disease community and extensive professional experience make her uniquely suited to lead NORD into its next chapter of innovation, advocacy and impact. Before joining NORD, she held several influential roles in healthcare innovation and safety, including as senior director, Strategic Business Initiatives at the University of Pittsburgh Medical Center, where she launched emerging technologies to improve healthcare delivery; government consultant responsible for developing the Federal Safety Reporting Portal for the NIH, FDA and other organizations; founder and executive of SafeCare Systems, a pioneer in safety management information systems; and division director at the Harvard Risk Management Foundation. Gavin holds a Master of Business Administration in Healthcare Management from Northeastern University and a bachelor’s degree from Smith College.    DNA Today Episodes Referenced #147 CF Series: Bijal Trivedi on "Breath From Salt" #149 CF Series: Gunnar Esiason on Patient Advocacy  #293 Smith-Magenis Syndrome with Parent Scotti Taylor   There are countless episodes about rare diseases, many of which are captured in this YouTube playlist.    Get involved with a rare disease organization here on NORD’s website.  We’re honored to share that "DNA Today" has once again been recognized by Feedspot as one of the Top 10 DNA Podcasts, Top 25 Genetics Podcasts, and Top 70 Award-Winning Podcasts! Even more exciting? We continue to hold the Number 1 spot as the leading podcast about DNA! This achievement is thanks to our incredible guests, engaged listeners, and amazing supporters. Your enthusiasm for genetics and genomics keeps us inspired to bring you the latest discoveries, expert interviews, and meaningful stories. Thanks to Anuj Agarwal for continuing to recognize our podcast every year! Get ready, genetic

This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism.    This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.    We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.   The Actors:   Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.   After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession.    Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.   Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor. Pediatric Mock Session Case Information    Case Details: The patient is a 4 year old male with autism and global developmental delay who presented to genetics with his mother and sister-in-law.   Patient Name: John   Parent Name: Claire   Sister-in-law Name: Joy   Medical History: Pregnancy: Uncomplicated  Non-invasive prenatal screening: low risk for trisomies Ultrasounds were normal Full term via NSVD Exposures: none Developmental milestones: delayed Sitting: 10 months Walking: 2 years Talking: 3 years Can speak in 2-3 word sentences Education Preschool  Therapies OT (2x weekly, 30 min) ST (2x weekly, 30 min) PT (2x weekly, 30 min) Review of Systems ENT - ear infections (3x) Normal physical exam Specialists seen: Neurologist, Audiologist, Developmental Pediatrician    Family History: Ancestry: Irish and German No consanguinity, birth defects, genetic conditions, multiple miscarriages or infant deaths Cousin with autism Pediatric Mock Session Outline   Contracting: Greetings and introductions Reason for referral to genetic counseling Overview of session Address patient questions or concerns   Medica

Happy Rare Disease Day! We are celebrating by shining a light on Wiedemann-Steiner Syndrome (WSS), which is a rare genetic condition that affects development, growth, and overall health. Joining us are Caleb and Abbi Wahl, parents to two daughters, one of whom, Jenni Anne, was diagnosed with WSS after a seven-year diagnostic odyssey.  They share:🧬 Early signs & the long road to diagnosis💡 How they processed & adapted to the diagnosis🤝 Resources & the support that made a difference📢 Their advocacy work & the power of the WSS community Resources:  Team IMPACT  Uplifting Athletes WSS Foundation  National Organization for Rare Disorders  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

How can preventive genomic medicine save $200 billion annually in healthcare costs? Dr. Matthew Rabinowitz breaks it down in this episode. Dr. Rabinowitz—a true pioneer in genetics, diagnostics, and AI—who’s been at the forefront of transforming how we approach health and medicine. Dr. Rabinowitz isn’t just a scientist; he’s a visionary who’s helped create groundbreaking technologies, from revolutionizing pregnancy care to tracking cancer through blood tests. In 2024, he was named R&D Leader of the Year by R&D World. Now, he’s tackling preventative genomic medicine, showing us how tools like whole genome sequencing (WGS) and polygenic risk scores (PRS) are turning healthcare from reactive to proactive. Dr. Rabinowitz is the co-founder and Executive Chairman of MyOme and has played a key role in developing cutting-edge genomic technologies. His work has shaped the fields of reproductive genetics, cancer diagnostics, and precision medicine. With over 100 patents and publications, including papers in Science and Nature, his impact on healthcare is undeniable. Topics Covered: How whole genome sequencing (WGS) is reshaping healthcare and risk assessment The power of polygenic risk scores (PRS) in cancer prevention and early detection MyOme’s Breast Cancer Polygenic Risk Score (PRS) and its implications for proactive medicine The economic benefits of genomic medicine in early intervention and disease prevention include potentially saving $200 billion annually in healthcare costs Ethical considerations and the importance of inclusivity in genomic research The future of preventive genomic medicine—will WGS become standard care? Will it start with newborns? Resources and Links: Learn more about MyOme and its work in preventive genomic medicine: myome.com Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

This week, I attended BIO’s CEO and Investor Conference in New York City—one of the largest investor gatherings in the biotech industry. The conference, organized by BIO (Biotechnology Innovation Organization), brings together institutional investors, industry analysts, and senior executives to discuss the latest biotech advancements and investment opportunities. At the conference, I attended insightful panel discussions and company presentations where biotech CEOs shared their latest breakthroughs, research progress, and investment potential. After their presentations, I had the chance to sit down with two biotech leaders to dive deeper into their work: Dr. Premal Patel of Cellinfinity Bio and Dr. Travis Whitfill of Azitra. Guest Bios: Dr. Premal Patel A physician-scientist with 15 years of experience in medical oncology drug development, Dr. Patel has worked with major biotech companies like Genentech, Pfizer, and Juno Therapeutics. He specializes in CAR-T therapy, a groundbreaking approach to engineering immune cells to fight cancer. Now, as CEO of Cellinfinity Bio, he’s focused on tackling one of cancer treatment’s biggest challenges: using CAR-T to treat solid tumors. Dr. Travis Whitfill A serial biotech entrepreneur and venture capitalist, Dr. Whitfill co-founded Azitra, a company pioneering the use of synthetic biology to engineer skin bacteria for treating rare genetic skin diseases. He has led multiple biotech startups, served on the boards of several healthcare companies, and was named to Forbes’ 30 Under 30 (Healthcare) list in 2018. Interview Highlights: Dr. Premal Patel – CAR-T Therapy for Solid Tumors CAR-T cell therapy has revolutionized blood cancer treatment, but treating solid tumors remains a major challenge. Dr. Patel explains how Cellinfinity Bio is re-engineering T cells to overcome the barriers posed by solid tumors, making them more effective at infiltrating and attacking cancer cells. His team’s gene engineering approach aims to make CAR-T therapy more accessible and affordable, potentially bringing costs down to the range of antibody-based treatments. The ultimate goal: a game-changing, in-body T-cell reprogramming approach that could expand access to CAR-T therapies globally. Dr. Travis Whitfill – Engineering Skin Bacteria for Rare Diseases Azitra is developing synthetic biology solutions for rare genetic skin diseases, like Netherton syndrome, which currently has no FDA-approved treatments. Their novel therapy aims to treat skin rashes in cancer patients taking EGFR inhibitor drugs, reducing the need for high-dose antibiotics and steroids. Genetically modified bacteria (Staphylococcus epidermidis) are used to deliver missing proteins directly to the skin, a groundbreaking approach in dermatology and rare disease treatment. By integrating precision genetic engineering with synthetic amino acid control, Azitra ensures the therapy is both effective and safe. Resources & Links: Learn more about BIO’s CEO & Investor Conference here Explore Cellinfinity Bio’s CAR-T research here Discover Azitra’s work in synthetic biology here Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Fa

February marks Rare Disease Month, and we’re kicking it off with an incredible advocate in the rare disease community—Gay Grossman! Gay is the co-founder of ADCY5.org, a foundation dedicated to supporting individuals with ADCY5-related movement disorder. Her advocacy journey began with her daughter, Lilly, who went undiagnosed for 15 years before becoming the first known patient with a full-body presentation of ADCY5-related movement disorder. Since then, Gay has transformed her personal experience into global action, building a rare disease community that has directly influenced research and treatment options. Her efforts have bridged the gap between patients, families, researchers, and industry stakeholders, leading to groundbreaking advancements in genetic testing, patient data sharing, and treatment development. Gay now works at GeneDx, where she continues to empower families through genetic testing and data-driven research. On This Episode We Discuss: - Raising a child with an undiagnosed rare disease – The emotional and practical challenges of a 15-year diagnostic journey- The power of community in rare disease research – How ADCY5.org changed the research landscape- Genetic testing and patient data – Why it’s crucial for rare disease families and how to leverage it- Life after diagnosis – How Lilly manages symptoms and what treatments have been most effective- How YOU can support the rare disease community – Advocacy, awareness, and action If you are in the San Diego area, join Gay Grossman, Effie Parks and other rare disease advocates at their event downtown on Feb 28th (aka Rare Disease Day), more info here. If you are not in San Diego, find an event more local to you here.    Speaking of Effie Parks, be sure to check out her podcast Once Upon A Gene, and stick around until the end to hear her son Ford’s adorable laugh. Effie was on Episode #203 of DNA Today and our host Kira Dineen was a guest on her podcast in Episode #143.    During this episode we also mentioned another parent of a kid with a rare disease that includes sleep disturbances. Scotti Taylor shared about her daughter’s Smith Magenis Syndrome on Episode #293.    Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

True crime dominates the podcasting world, but what about the genetic aspects behind these cases? In this episode of DNA Today, we dive into the pivotal role of DNA in forensic science with Dr. Henry Erlich, a pioneer in DNA analysis and a key figure in developing polymerase chain reaction (PCR) technology. His work has transformed the criminal justice system, from solving cases to overturning wrongful convictions. Dr. Henry Erlich has authored over 450 publications and spent decades applying DNA analysis to criminal investigations, missing persons cases, and ancestry research. His lab performed the first DNA case in the US and, in 1988, the first DNA exoneration. Erlich was the Director of the Department of Human Genetics and Vice-President of Discovery Research for Roche Molecular Systems, Inc until 2013. He is currently a Senior Scientist at Benioff Children’s Hospital Oakland Research Institute. He has published > 450 articles and is the recipient of numerous awards. After reading his book Genetic Reconstruction of the Past, I had countless questions about how PCR reshaped the justice system, its impact on exonerations, and the ethical implications of forensic DNA databases. Trigger Warning: This episode contains discussions of murder and sexual assault, which may not be suitable for young listeners. Topics Covered: The development of PCR technology and its revolutionary impact on forensic genetics How PCR outperformed older methods like RFLP in criminal case investigations Pennsylvania vs. Pestinikas (1986), the first criminal case using DNA analysis Key forensic DNA terms explained: inclusion, match, exclusion, and random match probability The role of DNA evidence in exonerations and wrongful convictions How forensic labs analyze DNA from multiple individuals at crime scenes The establishment of the FBI’s National DNA Index System (NDIS) and who is included The ethical concerns surrounding partial DNA matches and familial searching How public DNA databases like GEDmatch helped identify the Golden State Killer Dr. Erlich’s insights into the O.J. Simpson case and its impact on public perception of forensic DNA Resources and Links: Read Genetic Reconstruction of the Past by Dr. Henry Erlich Explore the National DNA Index System (NDIS) and CODIS The Innocence Project: Fighting wrongful convictions with DNA evidence GEDmatch and its role in forensic investigations Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).  Joining us are two leading experts in the field: Dr. Lea Starita, Associate Professor at the University of Washington and Co-Director of the Brotman Baty Advanced Technology Lab. Dr. Douglas Fowler, Professor of Genome Sciences and Co-Director of the Center for the Multiplexed Assessment of Phenotype. Together, they break down how these groundbreaking methods work, their advantages over traditional approaches, and their potential to advance precision medicine. From the challenges of interpreting MAVEs data to their role in reducing health disparities and resolving variants of uncertain significance (VUS), this episode offers a comprehensive look at the future of genomics. Dr. Lea Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure. Dr. Douglas Fowler is a Professor of Genome Sciences and an Adjunct Professor of Bioengineering at the University of Washington. Dr. Fowler is co-Director of the Center for the Multiplexed Assessment of Phenotype, an NHGRI Center of Excellence in Genome Sciences. He is also a founder and current co-chair of the Atlas of Variant Effect Alliance executive committee.   Key Topics Covered: What are MAVEs, and why are they revolutionary for variant curation? How MAVEs allow for simultaneous testing of thousands of genetic variants. Real-world applications of MAVEs in understanding specific genes and conditions. How MAVEs resolve VUS and accelerate precision medicine. Ethical and practical considerations in moving MAVEs from research to clinical practice. The role of collaboration and initiatives like the Atlas of Variant Effect Alliance in advancing the field.   Resources: Atlas of Variant Effects Alliance: Precision medicine at nucleotide resolution Variants and Us (VUS) Podcast  Introduction to Deep Mutational Scanning (Animation) An Atlas of Variant Effects to understand the genome at nucleotide resolution Understanding haemophilia, one amino acid at a timeWill variants of uncertain significance still exist in 2030? Mutational Scanning Symposium 2025 in Barcelona in May 2025 Impact of Genomic Variation on Function (IGVF) Consortium N-Lorem developing ASOs for nano-rare diseases NIH’s ClinVar Database    Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.  See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.