『DNA Today: A Genetics Podcast』のカバーアート

DNA Today: A Genetics Podcast

DNA Today: A Genetics Podcast

著者： Kira Dineen Gene Pool Media
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Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

***Best Science and Medicine Podcast Award Winner (2020, 2021 and 2022)***

Learn more (and stream all 400+ episodes) at DNAtoday.com. You can contact the show at info@DNAtoday.com.


This show is part of "Gene Pool Media: The Science Podcast Network" head to GenePoolMedia.com to explore all our science themed shows.

DNA Today, LLC 2012-2026 生物科学 科学
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  • #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan

    #401 The First Precision Medicine for Achondroplasia with Dr. Ravi Savarirayan
    2026/07/03
    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 achondroplasia with open epiphyses. We also discuss the most serious side effect seen—transient decreases in blood pressure, which is why patients should have adequate food and fluid intake prior to administration. We also cover that it is a daily injection and that injection site reactions are the most common side effect and some patients also experienced vomiting, injection site urticaria, arthralgia, decreased blood pressure, and gastroenteritis. Those aren't all the side effects, so please refer to the prescribing information here for more information about vosoritide. Relevant Resources: Savarirayan, R., Hoover-Fong, J., Ozono, K. et al. International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia. Nat Rev Endocrinol 21, 314–324 (2025). https://doi.org/10.1038/s41574-024-01074-9 ...
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    37 分
  • #402 How Genetic Genealogy Caught the Golden State Killer

    #402 How Genetic Genealogy Caught the Golden State Killer
    2026/07/10
    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 laterHow investigators decide which biological samples may still have forensic valueThe Zodiac Killer case and what would be needed to consider it scientifically solvedThe challenges of DNA evidence from stamps, envelopes, letters, and other handled itemsWhy finite evidence creates difficult decisions about testing now versus waiting for future technologyThe role of DNA in linking the Golden State Killer crimes before a suspect was identifiedWhy traditional forensic DNA databases did not solve the caseHow investigative genetic genealogy helped generate a new leadHow distant relatives’ DNA can help identify someone who never uploaded their own DNAThe scientific and investigative process behind building genealogical trees from crime-scene DNAHow investigators narrowed family branches until Joseph DeAngelo became a viable suspectReconstructing Marilyn Monroe’s final hours using virtual crime-scene technologyWhat 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’s Cold Cases by Paul HolesSmall Town Dicks podcastCelebrity Crime Scene: Marilyn Monroe, available on Hulu Relevant DNA Today Podcast Episode #326: How DNA Solves Crimes: The Forensic Science Behind True Crime #131: DTC Series: Libby Copeland on Law Enforcement Use of Genetic Databases #130 DTC Series: Anne Greb on 23andMe Connect 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 episodes were filmed at our home studio, the iconic NBC Universal Stamford Studios. 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...
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    24 分
  • #403 Genetic Counseling Boards Prep: ABGC’s New Resources

    #403 Genetic Counseling Boards Prep: ABGC’s New Resources
    2026/07/17
    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 assessWhere candidates should begin when navigating ABGC’s certification and exam resourcesHow to use the exam content outline when developing a study planWhy ABGC created its new CGC self-study guideHow candidates can use the self-study guide alongside the approved referencesWhat candidates can expect from ABGC’s new student webinarHow questions for the certification exam are written and reviewedWhat makes a strong “one best answer” board-exam questionHow ABGC evaluates questions for accuracy, relevance, fairness, and justice, equity, diversity, and inclusion considerationsWhat has changed in the updated ABGC practice examinationHow closely the practice exam reflects the structure and reasoning required on the certification examHow candidates should interpret their practice-exam resultsHow the passing standard for the certification exam is determinedPreparation steps candidates should take before exam dayEncouragement and next steps for candidates who do not pass on their first attemptHow 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) websiteIntroducing the New CGC® Logo & Digital BadgeABGC Certify Eligibility RequirementsCertification Process, Exam and FeesNeed-Based Certification Scholarship ABGC CGC Exam ResourcesCandidate Guide (Start here)Exam Content OutlineSelf Study Guide Syndromes and Disorders List on Pages 19 and 20 Practice ExamExamination References Exam Performance Taskforce ReportStudent 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, administration, costs, financial assistance, equity, and available resources.#235 Genetic Counseling History: ABGC Formation — Seasoned genetic counselors Ann Walker and Ed Kloza share about the formation of ABGC#138 Genetic Counseling Boards Advice — Three genetic counselors share their experiences preparing for and taking the board exam, including study schedules, review courses, subject areas, resources, and balancing studying with work.#126 Adam Buchanan on ABGC Boards Exam — Then-ABGC President Adam Buchanan answers listener questions about the exam’s structure, content, study resources, scoring, results, testing accommodations, cost, and inclusivity.#57 Georgia Hurst on Lynch Syndrome — Patient advocate Georgia Hurst opens up about how Lynch syndrome has affected her and her family. This episode was mentioned towards the end of the interview. Connect: 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 ...
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    31 分
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