The Genetics Podcast

Sano Genetics
  • 4.8 (51)
  • Natural Sciences
  • Updated Biweekly

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 244: Building the first n-of-1 ASO: The new frontier of rare disease with Timothy Yu of Boston Children’s Hospital

    6d ago

    EP 244: Building the first n-of-1 ASO: The new frontier of rare disease with Timothy Yu of Boston Children’s Hospital

    This week on The Genetics Podcast, Patrick is joined by Dr. Timothy Yu, Associate Professor of Pediatrics at Harvard Medical School and Physician/Researcher at Boston Children’s Hospital. They discuss how one child’s hidden genetic mutation led Tim into individualized ASO medicine, what it takes to develop n-of-1 therapies, and how new regulatory frameworks could expand treatment options for children with ultra-rare genetic disease. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Tim 02:05 How uncovering the genetic mutation underlying an ultra-rare disease led Tim into personalized ASO medicine 07:38 Challenges in developing a custom ASO  12:25 How Tim’s team has scaled individualized ASO therapies to reach more than 50 patients worldwide 16:18 Measuring clinical benefit in n-of-1 therapies with natural history data, wearables, and biomarkers 20:24 How the N-of-1 Collaborative helps rare disease researchers share infrastructure  24:28 Comparing ASOs, base editing, and prime editing for individualized rare disease therapies 30:06 Finding scalable models for n-of-1 therapies in newborn genetic disease 33:52 The potential impact of the FDA’s Plausible Mechanism framework on bespoke therapies 36:58 Connecting rapid newborn genome sequencing to earlier treatment for rare genetic disease 42:10 Closing remarks

    44 min
  2. EP 243: How BD² is using genetics and deep phenotyping to transform bipolar research with Cara Altimus and Ben Neale

    Jun 11

    EP 243: How BD² is using genetics and deep phenotyping to transform bipolar research with Cara Altimus and Ben Neale

    This week on The Genetics Podcast, Patrick is joined by Dr. Cara Altimus, CEO of BD², and Dr. Benjamin Neale, Associate Professor at Harvard Medical School and Massachusetts General Hospital. They discuss how rare variant discovery is opening new routes into bipolar disorder biology, how BD² is combining genetics with longitudinal multimodal data, and how patient priorities are shaping a research model focused on faster diagnosis and more precise treatments. Show Notes 0:00 Intro to The Genetics Podcast 00:58 Welcome to Cara and Ben 01:57 The origin and aims of BD2  04:20 Major knowledge gaps in bipolar disorder genetics 06:43 Using genetics and deep phenotyping to map bipolar disorder biology 13:47 Why bipolar disorder genetics needs both scale and deep clinical data 17:32 Finding the most predictive data for bipolar disorder biology and care 19:19 The search for scalable biomarkers in bipolar disorder 21:35 How BD² is building a bridge from discovery to clinical trials 26:48 Why bipolar diagnosis takes years and what patients want research to solve 33:08 How BD² is looking to other programs as inspiration to build a new research model 35:31 What overlapping risk genes reveal across bipolar disorder, schizophrenia, and autism 37:40 How rare variants could de-risk precision psychiatry trials 41:25 How BD² is scaling from early milestones to global funder momentum 45:04 Closing remarks  Please consider rating and reviewing us on your chosen podcast listening platform!  https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link Find out more: BD2

    48 min
  3. EP 242: Connecting dementia research, policy, and patient communities with Angela Bradshaw of Alzheimer Europe [Re-Run]

    Jun 4

    EP 242: Connecting dementia research, policy, and patient communities with Angela Bradshaw of Alzheimer Europe [Re-Run]

    This week on The Genetics Podcast, Patrick is joined by Dr. Angela Bradshaw, Director for Research at Alzheimer Europe and honorary lecturer at the University of Glasgow. Following a series of recent episodes exploring Alzheimer’s disease research, we’re revisiting this conversation to bring in an essential patient advocacy and nonprofit perspective on the field. Patrick and Angela discuss how Alzheimer Europe partners in and supports pan-European dementia research, the heterogeneity of dementia and Alzheimer’s disease, the future of potential new gene therapies, and the critical role advocacy organizations play in ensuring research reflects the needs and priorities of patient communities.Show Notes 0:00 Intro to The Genetics Podcast 01:27 Welcome to Angela and how she joined Alzheimer Europe 06:06 The biggest priorities and areas of focus for dementia and Alzheimer’s Disease (AD) research 10:10 Biomarkers for dementia and how early in disease development they can be utilized 12:40 The heterogeneity of dementia and AD and current understanding of subtypes and treatment journeys 17:20 The challenges of diagnosis, early identifiers, and the integration of genetics 18:53 Angela’s view on the latest breakthrough therapies 22:50 Partnering in and supporting dementia research efforts across 30+ European countries 29:15 Reimbursement frameworks and shared regulations across different countries 33:40 Angela’s thoughts on the near future of gene therapies for AD and dementia 38:04 Why Angela spent 50 hours travelling the length of Australia by bus 41:26 Closing remarks Find out more Alzheimer Europe Please consider rating and reviewing us on your chosen podcast listening platform!

    43 min
  4. EP 241: The hard-won lessons behind Encoded Therapeutics’ Dravet syndrome gene therapy with Salvador Rico [Re-run]

    May 28

    EP 241: The hard-won lessons behind Encoded Therapeutics’ Dravet syndrome gene therapy with Salvador Rico [Re-run]

    This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. With Encoded’s Dravet syndrome gene therapy program recently reaching major clinical and regulatory milestones, we’re revisiting this conversation on Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and the fundamental challenges and exciting advances shaping the future of genetic medicine. Show Notes 0:00 Intro to The Genetics Podcast 01:27 Welcome to Salvador and how he became involved in drug development 11:29 Frustrations and rewards of the genetics field 14:27 Salvador’s study on gene therapy for patients with X-linked myotubular myopathy (XLMTM) 20:13 Risk of liver issues in gene therapy trials and attempts to mitigate them 24:50 Encoded Therapeutics‘ approach to drug discovery and what motivated Salvador to join the team 27:50 Steps towards therapeutic targeting of gene regulatory elements  30:32 Advantages of different methods for drug delivery  32:59 DNA- versus RNA-based therapy   35:24 Insights from approaches in other fields, including psychiatry 37:03 Considerations for using natural history studies 41:00 Expectations and goals for Encoded Therapeutics’ current and upcoming studies 43:45 Closing remarks Find out more Encoded Therapeutics New clinical data

    46 min
  5. EP 240: Hijacking DNA repair machinery to treat Huntington’s disease with Vincent Dion of the UKDRI

    May 21

    EP 240: Hijacking DNA repair machinery to treat Huntington’s disease with Vincent Dion of the UKDRI

    This week on The Genetics Podcast, Patrick is joined by Dr. Vincent Dion, Group Leader at the UK Dementia Research Institute at Cardiff University. They discuss how repeat expansions drive Huntington’s disease and other neurological disorders, why DNA repair can sometimes worsen these mutations over time, and how CRISPR nickase editing could offer a new way to shrink disease-causing repeats rather than simply silence them. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Vincent 01:45 Working on origins-of-life chemistry in Stanley Miller’s lab 03:56 Vincent’s path to genetics  06:00 How somatic repeat expansion drives Huntington’s disease  09:40 Therapeutic strategies for Huntington’s disease 15:29 Using gene editing to shrink repeat expansions 18:31 Optimizing CRISPR nickase delivery and expression for repeat expansion editing 25:15 Moving gene editing from academic research toward a first-in-human trial 27:31 Clinical trial challenges for Huntington’s gene therapies and uniQure’s early data 30:47 Epigenetic regulation of repeat instability in neurodegenerative disease 33:14 How basic science breakthroughs like CRISPR become transformative biology tools 34:55 How academic couples navigate the two-body problem when building research careers 39:39 Developing biomarkers to measure whether DNA-targeting therapies are working 42:17 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!

    44 min
  6. EP 239: What long-read sequencing reveals about Alzheimer’s and ALS with Paul Valdmanis of the University of Washington

    May 14

    EP 239: What long-read sequencing reveals about Alzheimer’s and ALS with Paul Valdmanis of the University of Washington

    This week on The Genetics Podcast, Patrick is joined by Dr. Paul Valdmanis, Associate Professor at the University of Washington. They discuss the impact of APOE4 on risk in Alzheimer’s disease, how long-read sequencing is uncovering hidden genetic variation in Alzheimer’s and ALS, and what rare variants and cryptic splicing can teach us about neurodegeneration. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Paul 01:40 Long-read sequencing and ancestry-specific APOE4 risk in Alzheimer’s disease 04:20 Key findings from Paul’s study on a protective APOE4-linked variant in Alzheimer’s disease 10:58 What rare PSEN1 and PSEN2 variants reveal about Alzheimer’s disease biology 14:38 Disease-specific genetic mechanisms in ALS versus Alzheimer’s 17:14 Precision therapies for neurodegenerative disease 18:35 Choosing therapeutic targets in the neurodegenerative disease cascade 20:21 Landscape of ALS and Alzheimer’s therapies  23:48 Lessons from liver-directed gene therapy on microRNA toxicity, cancer risk, and brain delivery challenges 29:12 Using long-read sequencing to uncover tandem repeat expansions missed by conventional genomics 33:26 Findings from a study of long-read sequencing on ancient genomes 38:06 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!  https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link Find out more: APOE study Ancestry study

    40 min
  7. EP 238: Uncovering epistatic interactions in complex disease with machine learning with Bin Yu of UC Berkeley

    May 7

    EP 238: Uncovering epistatic interactions in complex disease with machine learning with Bin Yu of UC Berkeley

    This week on The Genetics Podcast, Patrick is joined by Dr. Bin Yu, CDSS Chancellor’s Distinguished Professor at UC Berkeley. They discuss how different statistical approaches, from linear models to random forests, can be used to study complex genetic traits, recent findings on epistasis in cardiomyopathy, and how improving robustness and reproducibility can lead to more reliable scientific conclusions. Show Notes 0:00 Intro to The Genetics Podcast 01:00 Welcome to Bin 01:47 Linear models as the foundation of genetic analysis 05:34 Using random forests and stability to identify gene–gene interactions beyond linear models 11:05 How iterative feature weighting in random forests improves detection of gene interactions 13:10 Using GWAS to prioritize features in high-dimensional genetic data 15:06 Applying stable interaction models to hypertrophic cardiomyopathy in UK Biobank 20:47 Biological insights from gene–gene interactions in cardiomyopathy and evidence for indirect epistasis 23:25 Scaling discovery of epistatic interactions with better data and integrated experimental validation 27:21 The predictability, computability, and stability (PCS) framework for data science 30:06 How Bin’s early life during the Chinese Cultural Revolution shaped her  32:54 Balancing AI-driven productivity with human reasoning and scientific thinking 35:23 Developing the ability to read people through observation, listening, and real-world interaction 38:03 Closing remarks Find out more: Epistasis in cardiac hypertrophy study https://vdsbook.com/

    39 min
  8. EP 237: How genetics and environment shape neurodegeneration in Alzheimer's and Parkinson's with Sarah Marzi of King’s College London

    Apr 30

    EP 237: How genetics and environment shape neurodegeneration in Alzheimer's and Parkinson's with Sarah Marzi of King’s College London

    This week on The Genetics Podcast, Patrick is joined by Dr. Sarah Marzi, Senior Lecturer at King's College London and group leader at the UK Dementia Research Institute. They discuss the impact of genes and environment on neurodegenerative disease, including: how APOE genotype shapes microglial function, how cell type-specific epigenomics of postmortem brain tissue is revealing the role of microglia and oligodendrocytes in Alzheimer's disease, and how pesticide exposure drives selective dopaminergic neuron loss and neuroinflammation in Parkinson's. Show Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Sarah 02:13 Environmental contributions to Parkinson’s disease and ALS 05:01 The role of microglia in Alzheimer’s disease and findings from a study on APOE variants in a mouse model 12:50 APOE4 effects on lipid accumulation, microglial activation, and vitamin D receptor signaling  14:20 Building a multi-omic atlas of the Alzheimer’s brain 18:01 Overview of the pathological cascade of events in the Alzheimer’s brain 20:31 Anti-amyloid therapies, early intervention, and combination treatment strategies  22:24 Rotenone exposure and microglial immune activation in Parkinson’s disease 29:24 Dopaminergic neuron vulnerability to pesticide exposure and mitochondrial dysfunction  31:04 Familial Parkinson’s genes, polygenic Alzheimer’s risk, and genetically targeted clinical trials 33:13 Polygenic risk and microglial cell state regulation in Alzheimer’s disease 34:13 Defining cell states in single cell RNA sequencing 35:30 Oligodendrocyte epigenetic and transcriptional changes in Alzheimer’s disease 37:23 Sarah’s most memorable hiking adventures 38:58 Closing remarks Find out more: Alzheimer’s APOE microglia xenotransplantation study Rotenone exposure Parkinson’s study

    40 min
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4.8
out of 5
51 Ratings

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
    244
  • Rating
    Clean
  • Copyright
    © Sano Genetics
  • Show Website
    The Genetics Podcast

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