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  • #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors

    #397 ABGC Recertification Changes: Learning Scenarios Explained for Genetic Counselors
    2026/06/05
    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 counselorsWhat was missing from a recertification model based primarily on CEUs or reexaminationWhat Continuing Competence Learning Scenarios are, and what they are notHow these scenarios differ from traditional quizzes or testsWhy there may be more than one thoughtful way to respond to a complex genetic counseling situationHow panelist rationales help Diplomates understand the reasoning of other competent practitionersHow the new requirement is being phased in based on recertification cycleWhat genetic counselors in current recertification cycles need to know about voluntary scenario completionHow each scenario earns 0.1 CEU and how those CEUs fit into existing recertification requirementsHow often new Learning Scenarios will be publishedHow scenarios are developed and reviewed by ABGC’s Continuing Competence CommitteeWhy review by the DEIJ Committee is an important part of the processHow Learning Scenarios can address complex topics such as bias, cultural humility, access, identity, and patient-centered careWhether 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 practice. A deep love of GC education prompted her to serve as a genetic counseling program director, course director, clinical supervisor, thesis advisor, simulation facilitator, committee volunteer, and author of articles and a book. She is currently Director of Curriculum for the Institute for Genomics at Sarah Lawrence College and Co-director of the Genome Health Analysis master’s program co-created with NYU Langone’s Grossman School of Medicine. Heather Rich, MPA, ICE-CCP, is an Executive Director with Smithbucklin, bringing over 20 years of experience in certification, including oversight of more than 23 credentialing programs. She currently serves as Executive Director for the American Board of Genetic Counseling (ABGC). Ms. Rich possesses extensive expertise across all facets of certification, including governance, program development, and accreditation standards. She has successfully led multiple organizations through reaccreditation processes with both the American Board of Specialty ...
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    32 分
  • #396 Gene Therapy for Anxiety? Precision Psychiatry through CRISPR & RNA

    #396 Gene Therapy for Anxiety? Precision Psychiatry through CRISPR & RNA
    2026/05/29
    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 hypervigilanceWhy anxiety is shaped by both genes and environmentHow current anxiety treatments work, including SSRIs, benzodiazepines, CBT, and service animalsWhy SSRIs can help some people but fall short for othersThe role of serotonin, GABA, and brain circuits in anxietyWhat the 5-HT2A receptor is and why it mattersHow the HTR2A gene leads to production of the 5-HT2A receptor proteinThe difference between broadly changing serotonin levels and targeting a specific receptor pathwayHow CRISPR could be used to make more permanent DNA changesHow RNA interference could offer a more temporary or reversible way to reduce gene expressionWhat preclinical animal studies can and cannot tell usWhy the blood-brain barrier is such a major challenge for brain-targeted therapiesEthical questions around using gene therapy for mental health conditionsHow 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 neurogenetics. Blending personal story with neuroscience, Dr. Troy Rohn examines how technologies like CRISPR and RNA interference may one day allow researchers to target anxiety-related pathways with greater precision than current medications. The book also addresses the scientific and ethical complexities of this field, including safety, access, regulatory approval, the blood-brain barrier, and the challenge of moving from promising preclinical research to human clinical trials. Key Terms 5-HT2A receptor: A serotonin receptor involved in brain signaling, mood, perception, cognition, and emotional processing. HTR2A gene: The gene that provides instructions for making the 5-HT2A serotonin receptor. SSRI: Selective serotonin reuptake inhibitor, a class of medications commonly used to treat anxiety and depression by increasing serotonin availability in the brain. Examples are Lexapro, Zoloft, Prozac, Paxil, among others. CRISPR: A gene-editing technology that can be used to make targeted changes to DNA. RNA ...
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    32 分
  • #395 Mapping Melanoma: How Spatial Biology Is Advancing Cancer Research

    #395 Mapping Melanoma: How Spatial Biology Is Advancing Cancer Research
    2026/05/22
    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+ T-cell infiltration, and metastatic spread in melanoma. His work bridges clinical dermatology and translational cancer research, with a focus on using molecular and immunologic insights to better understand melanoma behavior and treatment response. Dr. Jia Hui Khoo specializes in spatial biology and single-cell technologies. She leads the DCS portfolio at MGI EU&AF, advancing the adoption of spatial biology solutions. DCS represents MGI’s three core technology areas: DNA genomics, cell omics, and spatial omics. She began her work at MGI by leading collaborations using Stereo-seq with research institutions across Europe and now drives product strategy for the company’s spatial multi-omics portfolio. Resources & Links MGI’s Stereo-seq Technology MGI’s Spatial Temporal Omics MGI Tech and NUS Pharmacy and Pharmaceutical Sciences Collaborate on Multi-Omics DCS Lab Researchers from Uppsala and Magdeburg obtain an ERC Synergy Grant to advance cancer immunotherapy Relevant DNA ...
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    28 分
  • #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida

    #394 How Newborn Sequencing Could Transform Pediatric Rare Disease Care in Florida
    2026/05/15
    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 legislationWhat the Sunshine Genetics Act makes possible for families in FloridaHow newborn genome sequencing could shorten or prevent the rare disease diagnostic odysseyThe role of the Sunshine Genetics Consortium in coordinating researchers, clinicians, geneticists, children’s hospitals, and biotech innovators across the stateWhy early genomic diagnosis can influence medical management, specialist referrals, surveillance, treatment planning, and access to clinical trialsHow 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 BEACONSWhat “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 genesHow families may be educated about voluntary participation and informed consentWhat types of results may be returned to parents and healthcare practitionersHow programs are thinking about childhood-onset, treatable, preventable, and potentially adult-onset findingsThe connection between earlier diagnosis and emerging gene-based therapiesWhat it takes to move complex genomic medicine legislation forwardHow Florida is building infrastructure for pediatric genomic medicineWhich 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 specialist visits, inconclusive testing, missed opportunities for early intervention, and emotional strain. Newborn sequencing raises the possibility of identifying certain serious genetic conditions before symptoms appear, allowing families and clinicians to act sooner. At the same time, implementing newborn sequencing brings important questions: What conditions should be included? What results should be returned? How should parents be consented? How will privacy and data use be handled? What infrastructure is needed to support follow-up care? And how can programs ensure equitable access? Relevant Resources: “Florida surges to forefront of rare disease research with boost from Sunshine Genetics Act” via Florida State University News“Florida Becomes The First State To Scan For Genetic Diseases In All Newborns” via ForbesThe Florida Institute for Pediatric Rare Diseases; the Sunshine Genetics Pilot Program; the Sunshine Genetics ConsortiumThe International Consortium on Newborn ...
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    33 分
  • #393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap

    #393 Whole Genome Sequencing and Multi-omic Tools Closing the Rare Disease Diagnostic Gap
    2026/05/08
    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 diagnosisHow healthcare systems and clinical practices are adopting genome sequencingHow whole genome sequencing is changing pediatric patient careWhy some patients remain undiagnosed after initial WGS testingThe current diagnostic gap in rare disease geneticsEfforts underway to improve diagnostic yieldWhat a multimodal and multi-omic approach looks like in practiceHow optical genome mapping and long-read sequencing complement WGSHow labs determine when to layer on additional technologiesThe 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 hereBaylor Genetics Enhances Whole Genome Sequencing Test with Optical Genome Mapping and Long‑Read Sequencing as Supplemental TechnologiesBaylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing CasesAAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical ReportBaylor 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 DelaysDr. 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 Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity #376 Why Females with Fabry Disease Aren’t “Just Carriers” 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 390 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@...
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    29 分
  • #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism

    #392 Your DNA Is Not Static: Roxanne Khamsi on Mutation & Mosaicism
    2026/05/01
    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 staticWhat somatic mutations are and why they matterThe concept of mosaicism and what it means that every human is a mosaicHow Darwinian evolution can happen within the bodyHow mutation supports antibody diversity and immune defenseClonal hematopoiesis and its links to cardiovascular disease and agingPhenocopies and how spontaneous mutations can mimic inherited diseaseCases where cells appear to self-correct through additional mutationsWhether 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: ProgeriaWerner syndrome Hyper IgM syndromesAdenosine 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 tumour1953 - 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 cell2003 - First draft of the human genome is announced complete. Relevant Papers: Early somatic mosaicism is a rare cause of long-QT syndromeVariations 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 BlackRoxanne’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 Ashby #297 Ambry Genetics Exome Reanalysis with Dr. Elizabeth Chao and Kelly Hagman #306 NIH’s Dr. Francis Collins on the Human Genome Project, and the Future of Genetics #351 Mock Cardiac Genetic Counseling Session (Long QT Syndrome) #365 Ending HIV, Accelerating COVID: Dr. Larry Corey’s Legacy in Vaccine Science 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 390 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 episodes were filmed at our home studio, the iconic NBC Universal. DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead is Liv Davidson. Our Digital Marketing and Automation Lead is Eric Knaus. And...
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    38 分
  • #391 Living with FSGS: A Genetic Kidney Disease Journey

    #391 Living with FSGS: A Genetic Kidney Disease Journey
    2026/04/24
    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) isHow FSGS affects kidney functionEmani McConnell-Brent’s journey to diagnosisThe role of APOL1 genetic risk variants in kidney diseaseWhy persistent protein in the urine should not be overlookedWhen genetic testing may be appropriate in kidney disease evaluationThe mental health and lifestyle impact of chronic kidney disease in young adultsHow 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 ProjectAKF’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 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 390 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.
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    38 分
  • #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story

    #390 Prince, Mayte Garcia, and Their Son Amiir’s Pfeiffer Syndrome Type 2 Story
    2026/04/17
    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 pregnancyWhy they declined amniocentesis during the pregnancyWhat Pfeiffer syndrome type 2 is and how it differs from other formsThe genetics of Pfeiffer syndrome, including FGFR2 and de novo variantsThe medical complexity of Amiir’s care after birthPrince as a father behind the public personaGrief, public image, and the pressure to “perform” wellnessMayte’s memoir and why she chose to tell this storyThe legacy of AmiirPrince’s humanitarian legacy beyond musicMayte’s leadership of Live 4 Love CharitiesThe 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 PrinceLive 4 Love CharitiesLove In Action ProgramStillborn 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 ProgramLive for Dance Program Glam Slam Benefit Tickets Pfeiffer Syndrome: MedlinePlus’ Page NORD PageBorn 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 (regarding Dr. Leibman’s late niece) Upcoming Live 4 Love Charities Event on April 21st On April 21, 2026, Live 4 Love Charities will host its Glam Slam Benefit at the W Hollywood, an evening dedicated to celebrating Prince’s lasting cultural and philanthropic legacy. The event will feature performances by Paisley Park alumni, joined by the Mpls All Star Band made up of former Paisley Park musicians, with additional special guests including Taylor Dayne, Sheila E, and more to be announced. Now led by Mayte Garcia, Live 4 Love Charities continues the mission Prince began: uplifting communities through compassion, creative empowerment, youth development, arts education, and healing. Through programs like Live 4 Dance and Live 4 Music, the organization helps mentor and empower the next generation of young artists. You can get tickets for their Grand Slam Benefit here. Learn more about the charity and the Glam Slam Benefit here: https://live4lovecharities.org/ Connect With Us: ...
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