Powered by RND
PodcastsVidenskabDNA Today: A Genetics Podcast
Lyt til DNA Today: A Genetics Podcast i appen
Lyt til DNA Today: A Genetics Podcast i appen
(2.537)(250.190)
Gem station
Vækkeur
Sleeptimer

DNA Today: A Genetics Podcast

Podcast DNA Today: A Genetics Podcast
Kira Dineen
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 ”DN...

Tilgængelige episoder

5 af 328
  • #327 How Patient Advocacy is Changing Rare Disease Research
    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 [email protected]
    --------  
    39:33
  • #326 How DNA Solves Crimes: The Forensic Science Behind True Crime
    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 [email protected]
    --------  
    45:22
  • #325 Revolutionizing Variant Curation with MAVEs
    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 time Will 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 [email protected].
    --------  
    35:57
  • #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists)
    With millions of people now taking GLP-1 agonists like Ozempic and Wegovy, I was curious to learn if there are known genetic mutations that predispose people to have serious side effects from these medications. So exploring the pharmacogenomic aspects of Ozempic and Wegovy.    To answer these questions Dr. Josiah Allen is joining the show. Josiah Allen, PharmD, has spent over 15 years in the field of pharmacogenomics, beginning at the Mayo Clinic where he helped develop the GeneSight test. As a founding employee and the first medical science liaison at Assurex Health, he helped GeneSight become one of the fastest growing molecular diagnostic tests in history.   He later served as director of medical affairs at OneOme and now works at St. Elizabeth Healthcare in Edgewood, KY, as a precision medicine pharmacist and PGY2 Clinical Pharmacogenomics pharmacy residency program director. He earned his bachelor's degree in psychology from Wheaton College and his Doctor of Pharmacy degree from the University of Minnesota.   In the recording, Dr. Allen teases that the Board of Pharmacy Specialties (BPS), the post-licensure certification organization serving the pharmacy profession, will issue a call for petition in pharmacogenomics. The board will be reviewing the petition and evaluating pharmacogenomics as a pharmacy specialty. In the days after we recorded this was released and you can find the full press release here. Topics Covered: The basics of pharmacogenomics and its role in personalized medicine. How genetic mutations, like those in the RET gene, influence medication risks. The pharmacogenomics of GLP-1 agonists (like Ozempic and Wegovy), including their contraindications for patients with RET mutations. Insights into the overlap between ACMG secondary findings and pharmacogenomic implications. Case studies illustrating the real-world impact of pharmacogenomics. Key Takeaways: GLP-1 agonists, such as Ozempic and Wegovy, carry a black box warning due to an association with thyroid cancer, particularly in individuals with RET gene mutations. Over one-third of the ACMG secondary findings genes have pharmacogenomic implications, emphasizing the need for clinicians to integrate genetic insights into prescribing practices. Pharmacists and geneticists need closer collaboration to bridge the gap between clinical genomics and pharmacogenomics for safer medication use. Resources: GeneReviews PharmGKB Table of Pharmacogenomic Biomarkers in Drug Labeling FDA Black Box Warning on GLP-1 Agonists 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.  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 [email protected].
    --------  
    34:45
  • #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care
    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 first episode of a series focused on the evolution of UCD management, we discuss the current state and importance of UCD management, and how clinicians can support their patients to sustain their daily UCD care. Joining us for the discussion are two renowned biochemical genetics experts with direct UCD patient care experience.   Holly Bernal, RN, MSN, FNPc is the nurse practitioner with Stanford Biochemical Genetics and has been in that role for the last 8 years. She originally earned her bachelor’s degree at San Francisco State University in 1991 followed by her master’s degree at UCSF in 1999. In 2016 she returned to San Francisco State and earned her FNP certificate and started her role in biochemical genetics. She has a passion for metabolic genetics and also coordinates Stanford’s newborn screening program.   Laurie Bernstein, MS, RD, FADA, FAND is a metabolic dietitian and Professor Emerita of the University of Colorado School of Medicine. Her significant contributions to the field of biochemical genetics include helping to found the professional organization Genetic Metabolic Dietitians International (GMDI) and co-founding Metabolic University, a training forum for new metabolic genetics clinicians. She is a co-editor and author of the textbook, Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University, and has also co-authored various other educational modules for families with IEMs.     On This Episode, We Discuss: The importance of tailoring UCD management plans based on the emerging and evolving needs of today’s patient population How clinicians can support patients with sustaining daily UCD management Strategies clinicians can use to better engage patients in their own UCD care   Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching “DNA Today.” Episodes since 2021 are also recorded with video, which you can watch on our YouTube channel; this includes some episodes recorded at NBC Universal Stamford Studios.   DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel, and our Logo Graphic Designer is Ashlyn Enokian. This episode is sponsored by AMGEN.   See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube, and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].  USA-RABU-80013 01/25
    --------  
    29:18

Flere Videnskab podcasts

Om DNA Today: A Genetics Podcast

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 2020, 2021, and 2022 Science and Medicine Podcast Award Winner*** Learn more (and stream all 300+ episodes) at DNAtoday.com. You can contact the show at [email protected].
Podcast-websted

Lyt til DNA Today: A Genetics Podcast, Videnskabeligt Udfordret og mange andre podcasts fra hele verden med radio.dk-appen

Hent den gratis radio.dk-app

  • Bogmærke stationer og podcasts
  • Stream via Wi-Fi eller Bluetooth
  • Understøtter Carplay & Android Auto
  • Mange andre app-funktioner
Juridiske forhold
Social
v7.6.0 | © 2007-2025 radio.de GmbH
Generated: 2/10/2025 - 7:57:42 PM