The Genetics Podcast

Sano Genetics
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  • NATURAL SCIENCES
  • EVERY TWO WEEKS

Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com

  1. EP 236: Fixing access and design in rare disease drug development: Insights from experts and patient advocates

    22 HR AGO

    EP 236: Fixing access and design in rare disease drug development: Insights from experts and patient advocates

    This week on The Genetics Podcast, Patrick is joined by Lindsey Wahlstrom, Co-Founder and Chief Momatologist of Rona’s FUN LAB, Jimi Olaghere, sickle cell disease patient advocate and early CRISPR gene therapy trial participant, and Rachel Smith, Vice President and Head of Rare and Genetic Diseases at Parexel. They discuss the realities of developing and delivering advanced therapies in rare disease, how funding models, regulation, and trial design shape access and outcomes, and why embedding patient experience early is critical to building therapies that are not only effective but scalable, accessible, and meaningful for patients and families. Show Notes:  0:00 Intro to The Genetics Podcast 01:00 Welcome to guests and what Rare Disease Day means to them 08:09 Balancing hope with funding, pricing, and access in advanced therapies 11:48 Why patient access must be built into drug development from day one 14:20 Patient engagement, community readiness, and the realities of trial participation 17:49 Why early patient input is still inconsistent and often treated as a checkbox 23:20 Designing trials around what actually matters to patients and families 26:53 Navigating regulators, payers, and trial design constraints in rare disease therapies 36:02 Redefining success in gene therapy around access, scalability, and real patient benefit 43:27 Closing remarks

    45 min
  2. EP 235: Inside Alzheimer’s disease: Blood biomarkers and predicting symptoms with Suzanne Schindler of Washington University

    16 APR

    EP 235: Inside Alzheimer’s disease: Blood biomarkers and predicting symptoms with Suzanne Schindler of Washington University

    This week on The Genetics Podcast, Patrick is joined by Dr. Suzanne Schindler, Associate Professor of Neurology at Washington University in St. Louis. They discuss how blood-based biomarkers like p-tau217 are transforming our ability to detect and stage Alzheimer’s disease, how “clock models” can estimate when symptoms may begin, and how combining biomarkers with clinical phenotyping could improve trial design, prognosis, and patient care. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Suzanne 01:35 Neurobiology of Alzheimer’s disease and how it differs from dementia 06:22 Presymptomatic changes to phosphorylated tau (p-tau) in the brain 07:36 The role of the APOE gene in Alzheimer’s 09:07 Differences in neuropathology in women vs men with Alzheimer’s 10:19 Rare cases where amyloid and tau pathology do not align in Alzheimer’s 12:37 Using plasma p-tau217 trajectories to estimate when Alzheimer’s symptoms may begin 17:30 Using p-tau217 to select clinical trial participants and predict progression timelines 20:59 Overview of therapeutic strategies in Alzheimer’s disease 24:24 Why APOE effects may not appear in p-tau217 measurements 26:30 Combining biomarkers and clinical phenotyping to understand disease progression in Alzheimer’s 30:08 Early-onset vs late-onset Alzheimer’s and differences in clinical presentation 31:45 Expanding beyond p-tau217 to proteomics and multimodal biomarkers for predicting symptoms 33:52 MTBR-tau243 as a more specific marker of tau pathology and Alzheimer’s symptoms 37:31 Expanding biomarkers beyond Alzheimer’s and bringing blood tests into clinical practice 38:49 Closing remarks Find out more: Phosphorylated tau217 study MTBR-tau243 study

    40 min
  3. EP 234: Inside rare disease trial operations: The role of CROs in an evolving landscape with Derek Ansel of Worldwide Clinical Trials

    9 APR

    EP 234: Inside rare disease trial operations: The role of CROs in an evolving landscape with Derek Ansel of Worldwide Clinical Trials

    This week on The Genetics Podcast, Patrick is joined by Derek Ansel, Global Vice President and Therapeutic Strategy Lead for Rare Disease and Oncology at Worldwide Clinical Trials. They discuss how contract research organizations design and run rare disease trials, the challenges of selecting endpoints and patient populations, and how emerging approaches like n-of-1 therapies, regulatory flexibility, and AI are reshaping clinical development.Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Derek 01:38 The role of Contract Research Organizations (CROs) in clinical development 02:41 Why endpoints are the hardest problem in rare disease trial design 05:24 How Derek’s team chooses and operationalizes endpoints in rare disease trials 08:14 Balancing patient selection, signal detection, and trial feasibility in rare disease 11:55 How the FDA’s new guidance for personalized therapies could accelerate rare disease drug development 14:20 Patient engagement, genetic counseling, and decision-making in genetic trials 19:30 Patient and clinician dynamics in genetic subtypes of common disease 23:05 What needs to change to make n-of-1 therapies scalable and accessible 26:12 Where AI is delivering real impact in clinical trials today and where it is heading 31:24 Operational bottlenecks, risk tolerance, and the limits of AI adoption in clinical trials 34:55 Derek’s path from early clinical research roles to genetic counseling and rare disease drug development 38:51 Key areas driving progress in rare disease over the next five years 41:42 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!

    43 min
  4. EP 233: Unlocking early detection in liver disease with data and genetics with Tim Jobson of Predictive Health Intelligence

    2 APR

    EP 233: Unlocking early detection in liver disease with data and genetics with Tim Jobson of Predictive Health Intelligence

    This week on The Genetics Podcast, Patrick is joined by Dr. Tim Jobson, consultant physician and gastroenterologist at Somerset NHS Foundation Trust and Medical Director of Predictive Health Intelligence (PHI). They discuss the rising burden of metabolic liver disease and how routine clinical data can be used to detect disease earlier and prevent late-stage presentation. They also discuss the LiveWell study, a collaboration between Sano Genetics and PHI, and what it reveals about layering genetics and other data types to improve risk stratification and clinical trial recruitment.  Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Tim 01:50 The rise of metabolic liver disease and worsening mortality trends 04:35 Motivation and goals behind the Somerset Liver Improvement Program to address late diagnosis 09:13 Where genetics is already used in liver disease and where it’s still emerging 13:17 Current tools for staging liver disease and the challenge of predicting progression at scale 18:48 How the LiveWell study could improve risk prediction and reshape trial recruitment in liver disease 23:58 Applying longitudinal risk detection beyond liver disease to cardiometabolic and other chronic conditions 26:35 Using subtle changes in routine blood tests to identify cancer risk earlier 28:09 Using existing health data to drive earlier intervention and maximize patient impact 30:05 Expanding beyond liver disease, scaling early detection, and advancing precision medicine 32:18 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!

    33 min
  5. EP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School

    26 MAR

    EP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School

    This week on The Genetics Podcast, Patrick is joined by Dr. Glenn Cohen, Professor at Harvard Law School. They discuss the evolving legal and ethical landscape of reproductive genetics, why regulation in areas like embryo selection remains limited, and questions arising around the use of AI in healthcare. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Glenn 01:35 An overview of the courses Glenn teaches at Harvard Law School 02:29 Glenn’s areas of expertise across biomedical ethics 03:20 Ethical considerations around reproductive medicine and polygenic risk scores 10:37 Regulatory uncertainty and limited oversight in reproductive genetics 13:18 Liability, regulation, and real-world implementation challenges for AI in healthcare 14:52 Risk–benefit framework for evaluating AI use in clinical settings 17:19 Glenn’s experience contributing to landmark Supreme Court cases in biotechnology and health law 20:09 Glenn’s perspective on mitochondrial replacement and its regulatory divide between the UK and US 22:20 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!

    24 min
  6. EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland

    19 MAR

    EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland

    This week on The Genetics Podcast, Patrick is joined by Dr. Andrea Ganna, Associate Professor at the Institute for Molecular Medicine Finland (FIMM). They discuss the promise and limits of polygenic risk scores for disease prediction and clinical trials, how large-scale electronic health records and AI models could transform medical research and healthcare planning, what Finland’s national health data infrastructure enables for population-scale studies, and how genetics can be used to strengthen trial emulation in observational data. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Andrea 01:51 Andrea’s research focuses, including polygenic scores in biobanks and AI applications  03:02 Complementarity between polygenic scores and electronic health record–derived risk signals across biobanks 04:47 Using polygenic risk scores for prognostic versus predictive enrichment in clinical trials 10:28 Limitations and opportunities of using AI models on large-scale electronic health records 15:47 Legal, data infrastructure, and privacy barriers to building AI models on health records 18:04 Choosing model architectures for healthcare AI  19:47 Using AI and multi-omics data to integrate biological knowledge and the challenge of learning causality 21:43 How removing genetic effects from proteins improves disease prediction and highlights the role of environment 24:42 Finland’s health data ecosystem and national biobanks 28:11 Using genetics to improve trial emulation in biobank data and observational studies 33:42 Closing remarks Find out more: Trial emulation study Polygenic scores study Please consider rating and reviewing us on your chosen podcast listening platform!

    36 min
  7. EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute

    12 MAR

    EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute

    This week on The Genetics Podcast, Patrick is joined by Dr. Anna Lindstrand, Professor and Consultant in Clinical Genetics and Genomics at the Karolinska Institute. They discuss how Sweden has scaled whole genome sequencing as a first-line test for rare disease, what long-read sequencing adds to clinical diagnostics, how national genomic infrastructure can accelerate translation into precision medicine, and where prevention and adult genomic screening may fit into the future of healthcare. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Anna 01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice 04:05 Evaluating long-read sequencing in the clinic  06:37 What long-read sequencing adds to diagnostic yield 09:15 The role of RNA sequencing, proteomics, and methylation profiling as complementary tools in clinical genomics 13:07 Building a coordinated national infrastructure for clinical genomics and rare disease research in Sweden 18:20 The shift toward precision therapeutics and new standards for clinical actionability 23:18 Using national genomic data and registries to make Sweden trial-ready for precision therapies 27:01 Moving beyond monogenic models to capture polygenic and borderline signals in clinical genomics 30:44 Genomics for prevention including adult screening and pharmacogenomics 36:23 Anna’s research priorities for the next phase of genomic medicine and structural variant discovery 38:32 Closing remarks Find out more: Long-read sequencing study Moving beyond monogenic disease paper Please consider rating and reviewing us on your chosen podcast listening platform!

    40 min
  8. EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen

    5 MAR

    EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen

    This week on The Genetics Podcast, Patrick is joined by Dr. Matthew Goldstein, CEO of jscreen. They discuss his journey from physician-scientist and biotech founder to leading a national nonprofit focused on preventive genetic screening, how a personal tragedy reshaped his mission around carrier screening and access, and what it will take to close the gap between the promise of genomics and its real-world implementation in healthcare. Show Notes:  0:00 Intro to The Genetics Podcast 00:58 Welcome to Matthew 01:41 Matthew’s path from an MD-PhD to founding a personalized cancer vaccine biotech 09:06 From personal tragedy to leading jscreen to expand access to reproductive carrier screening  17:11 Purpose, grief, and how Matthew has led jscreen in honor of his daughter 20:38 The implementation gap between genomic potential and real-world preventive screening  23:33 Nonprofit models, reimbursement barriers, and building sustainable access to preventive genetic screening 28:27 Lessons from the Jewish community’s experience with Tay-Sachs and gaps in understanding 33:05 Preconception carrier screening and the role of community in preventive health 38:04 Closing remarks Find out more: jscreen

    40 min
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About

Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com

Information

  • Creator
    Sano Genetics
  • Years Active
    2019 - 2026
  • Episodes
    236
  • Rating
    Clean
  • Copyright
    © Sano Genetics
  • Show Website
    The Genetics Podcast

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