『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 14 years, 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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  • #418 Hypophosphatasia Genetics: One Gene, Many Presentations

    #418 Hypophosphatasia Genetics: One Gene, Many Presentations
    2026/10/30
    How can variants in the same gene cause life-threatening disease in infancy for some individuals, while others experience mild symptoms or remain asymptomatic? Hypophosphatasia (HPP) challenges traditional expectations about genetic inheritance, with both autosomal dominant and autosomal recessive forms and a remarkably broad spectrum of clinical presentations. In this episode, recorded in person in Nashville, our guest is Dr. Kathryn Dahir, Professor of Medicine in the Division of Diabetes, Endocrinology, and Metabolism at Vanderbilt University Medical Center and Director of the Program for Metabolic Bone Disorders. Drawing on decades of experience caring for patients with rare skeletal conditions, Dr. Dahir explores the complex genetics of HPP and why understanding a patient's clinical presentation is just as important as interpreting their genetic test results. The conversation begins with a patient case that challenged Dr. Dahir's understanding of HPP. Initially treated for osteoporosis, the patient experienced recurrent fractures and worsening symptoms despite treatment. Further investigation revealed impaired bone mineralization, low alkaline phosphatase (ALP), and a single ALPL variant, illustrating how individuals with one affected copy of the gene can experience significant disease. Dr. Dahir explains how the ALPL gene encodes tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme essential for healthy bone mineralization, and how disruption of its activity contributes to the manifestations of HPP. We explore the differences between autosomal dominant and autosomal recessive inheritance, the challenges of predicting disease severity from genetic testing alone, and why even relatives carrying the same ALPL variant may have very different symptoms. Dr. Dahir discusses the importance of identifying variants in cis or trans, recognizing deletions and duplications, evaluating variants of uncertain significance, and considering how genetic modifiers, environmental exposures, and coexisting conditions can influence a patient's presentation. Finally, we discuss the evolving landscape of HPP genetic testing, including the importance of longitudinal follow-up, resources such as the global ALPL variant database, and ongoing efforts to improve variant classification. As genomic testing becomes increasingly accessible, this conversation highlights both its potential to improve rare disease diagnosis and the limitations of using genetics alone to predict an individual's future health. Episode Discussion Topics Dr. Dahir's clinical experience treating HPP and other rare metabolic bone disorders at Vanderbilt University Medical CenterWhy genetic testing must be interpreted alongside clinical symptoms, biochemical findings, and patient historyA patient case illustrating how HPP can be mistaken for osteoporosis and why low alkaline phosphatase is an important diagnostic clueHow the ALPL gene and tissue-nonspecific alkaline phosphatase (TNSALP) regulate bone mineralizationThe differences between autosomal dominant and autosomal recessive HPP and the challenges of distinguishing affected individuals from asymptomatic carriersWhy genotype-phenotype correlations in HPP are complex, even among family members with the same genetic variantThe importance of determining whether variants are in cis or trans and identifying deletions or duplications that some testing platforms may missHow modifier genes, epigenetics, medication exposures, and coexisting medical conditions may influence HPP symptoms and severityInterpreting variants of uncertain significance and the importance of genetic counseling, variant reclassification, and long-term follow-upThe role of the global ALPL variant database in improving classification and understanding the clinical significance of genetic variantsFuture opportunities to identify protective genetic factors and improve predictions of disease progression About the HPP 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 & Links Vanderbilt University Medical CenterAlexion, AstraZeneca Rare Disease ALPL Gene Variant DatabaseSoft Bones: The U.S. Hypophosphatasia Foundation provides education, support, advocacy, and community resources for individuals and families affected by HPP.Explore Soft Bones’ HPP resources, including educational materials for patients, caregivers, and healthcare professionals. Publications Dahir KM, Below JE, Liu J, Javid A, Wang G, Bastarache L. Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository. J Bone Miner Res. 2026 Mar 2;41(3):...
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    35 分
  • #417 ASHG 2026: Electronic Genome Mapping, AI in Genetics, & the Future of Research

    #417 ASHG 2026: Electronic Genome Mapping, AI in Genetics, & the Future of Research
    2026/10/23
    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 malignanciesWhy genomic structural variants matter in cancer and rare diseaseHow traditional sequencing and cytogenetic approaches may leave gaps in detecting structural variationNabsys’ electronic genome mapping as a high-resolution, top-down approach to studying genome structureHow EGM uses electrical detection to read sequence-specific tags on long DNA moleculesIdentifying deletions, insertions, inversions, and translocations by comparing tag patternsHow EGM relates to traditional cytogenetic methods such as FISH and karyotypingThe nanochannel detection process and how DNA molecules affect ionic current as they pass throughNabsys’ relationship with Hitachi and the potential to scale the technologyNabsys’ goal of expanding access to structural variant detection and single-molecule insightsASHG posters on CRISPR-Cas9-mediated assay specificity and EGM applications for copy number variants in constitutional disordersThe potential for EGM to combine modalities and increase diagnostic yield over time Wiley Advanced Genetics Panelists Yuming Hu, PhD serves as the Editor-In-Chief for Advanced Genetics, which is a peer-reviewed, broad-scope, open-access journal dedicated to advancing gene-related research with a recently expanded scope. It includes not only human, animal, plant, and microbial genetics, genomics, and epigenomics, but also topics that employ genetic, omics technologies, bioinformatics, computational biology, and artificial intelligence as toolboxes for discovery and innovation. Dr. Hu received her B.Sc. and M.Sc...
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    42 分
  • #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR

    #416 How Baby KJ Became the First Patient Treated With Personalized CRISPR
    2026/10/16
    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 ChinaWhy He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlashThe difference between editing embryos and germline cells versus editing somatic cells in a patientWhat the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technologyHow the field of CRISPR medicine has evolved since 2018How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular diseaseUsing CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterolThe development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery diseaseThe possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatmentsHow cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiencyWhat CPS1 deficiency is and why it can become life-threatening shortly after birthHow Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatmentWhy KJ’s specific genetic variant was a candidate for base editingHow base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNADeveloping a gene-editing therapy specifically for a single patientDelivering the gene editor to liver cells using lipid nanoparticlesWhy the liver is an especially promising target for in vivo gene-editing therapiesThe collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possibleNavigating FDA review for a therapy that had never previously been given to a humanWhy KJ received multiple doses of the therapyEarly signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medicationWhy researchers are careful not to describe KJ’s treatment as a cureThe importance of long-term monitoring for both effectiveness and potential safety concernsEvaluating off-target editing and other potential risks of personalized gene-editing therapiesWhether creating an individual therapy for a single patient can realistically become scalableMoving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variantsHow regulatory frameworks may need to evolve for personalized genetic medicinesWhich other rare genetic diseases could potentially benefit from this approachWhat Baby KJ’s story could mean for the future of precision medicine and gene editing About Dr. Kiran Musunuru Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center ...
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    30 分
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