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The Genetics Podcast: Daily Summaries Delivered
by Sano Genetics
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.
Latest Episodes
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- 5 days ago47 min
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 Notes0:00 Intro to The Genetics Podcast00:58 Welcome to Cara and Ben01:57 The origin and aims of BD2 04:20 Major knowledge gaps in bipolar disorder genetics06:43 Using genetics and deep phenotyping to map bipolar disorder biology13:47 Why bipolar disorder genetics needs both scale and deep clinical data17:32 Finding the most predictive data for bipolar disorder biology and care19:19 The search for scalable biomarkers in bipolar disorder21:35 How BD² is building a bridge from discovery to clinical trials26:48 Why bipolar diagnosis takes years and what patients want research to solve33:08 How BD² is looking to other programs as inspiration to build a new research model35:31 What overlapping risk genes reveal across bipolar disorder, schizophrenia, and autism37:40 How rare variants could de-risk precision psychiatry trials41:25 How BD² is scaling from early milestones to global funder momentum45:04 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_linkFind out more:BD2
- 1 weeks ago42 min
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 Notes0:00 Intro to The Genetics Podcast01:27 Welcome to Angela and how she joined Alzheimer Europe06:06 The biggest priorities and areas of focus for dementia and Alzheimer’s Disease (AD) research10:10 Biomarkers for dementia and how early in disease development they can be utilized12:40 The heterogeneity of dementia and AD and current understanding of subtypes and treatment journeys17:20 The challenges of diagnosis, early identifiers, and the integration of genetics18:53 Angela’s view on the latest breakthrough therapies22:50 Partnering in and supporting dementia research efforts across 30+ European countries29:15 Reimbursement frameworks and shared regulations across different countries33:40 Angela’s thoughts on the near future of gene therapies for AD and dementia38:04 Why Angela spent 50 hours travelling the length of Australia by bus41:26 Closing remarksFind out moreAlzheimer EuropePlease consider rating and reviewing us on your chosen podcast listening platform!
- 2 weeks ago45 min
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 Notes0:00 Intro to The Genetics Podcast01:27 Welcome to Salvador and how he became involved in drug development11:29 Frustrations and rewards of the genetics field14:27 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 them24:50 Encoded Therapeutics‘ approach to drug discovery and what motivated Salvador to join the team27:50 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 psychiatry37:03 Considerations for using natural history studies41:00 Expectations and goals for Encoded Therapeutics’ current and upcoming studies43:45 Closing remarksFind out moreEncoded TherapeuticsNew clinical data
- 3 weeks ago43 min
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 Notes0:00 Intro to The Genetics Podcast01:00 Welcome to Paul01:40 Long-read sequencing and ancestry-specific APOE4 risk in Alzheimer’s disease04:20 Key findings from Paul’s study on a protective APOE4-linked variant in Alzheimer’s disease10:58 What rare PSEN1 and PSEN2 variants reveal about Alzheimer’s disease biology14:38 Disease-specific genetic mechanisms in ALS versus Alzheimer’s17:14 Precision therapies for neurodegenerative disease18:35 Choosing therapeutic targets in the neurodegenerative disease cascade20:21 Landscape of ALS and Alzheimer’s therapies 23:48 Lessons from liver-directed gene therapy on microRNA toxicity, cancer risk, and brain delivery challenges29:12 Using long-read sequencing to uncover tandem repeat expansions missed by conventional genomics33:26 Findings from a study of long-read sequencing on ancient genomes38:06 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform!
- May 14, 202640 min
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 Notes0:00 Intro to The Genetics Podcast01:00 Welcome to Paul01:40 Long-read sequencing and ancestry-specific APOE4 risk in Alzheimer’s disease04:20 Key findings from Paul’s study on a protective APOE4-linked variant in Alzheimer’s disease10:58 What rare PSEN1 and PSEN2 variants reveal about Alzheimer’s disease biology14:38 Disease-specific genetic mechanisms in ALS versus Alzheimer’s17:14 Precision therapies for neurodegenerative disease18:35 Choosing therapeutic targets in the neurodegenerative disease cascade20:21 Landscape of ALS and Alzheimer’s therapies 23:48 Lessons from liver-directed gene therapy on microRNA toxicity, cancer risk, and brain delivery challenges29:12 Using long-read sequencing to uncover tandem repeat expansions missed by conventional genomics33:26 Findings from a study of long-read sequencing on ancient genomes38:06 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_linkFind out more:APOE studyAncestry study
- May 7, 202639 min
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 Notes0:00 Intro to The Genetics Podcast01:00 Welcome to Bin01:47 Linear models as the foundation of genetic analysis05:34 Using random forests and stability to identify gene–gene interactions beyond linear models11:05 How iterative feature weighting in random forests improves detection of gene interactions13:10 Using GWAS to prioritize features in high-dimensional genetic data15:06 Applying stable interaction models to hypertrophic cardiomyopathy in UK Biobank20:47 Biological insights from gene–gene interactions in cardiomyopathy and evidence for indirect epistasis23:25 Scaling discovery of epistatic interactions with better data and integrated experimental validation27:21 The predictability, computability, and stability (PCS) framework for data science30:06 How Bin’s early life during the Chinese Cultural Revolution shaped her 32:54 Balancing AI-driven productivity with human reasoning and scientific thinking35:23 Developing the ability to read people through observation, listening, and real-world interaction38:03 Closing remarksFind out more:Epistasis in cardiac hypertrophy studyhttps://vdsbook.com/
- Apr 30, 202639 min
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 Notes0:00 Intro to The Genetics Podcast00:59 Welcome to Sarah02:13 Environmental contributions to Parkinson’s disease and ALS05:01 The role of microglia in Alzheimer’s disease and findings from a study on APOE variants in a mouse model12:50 APOE4 effects on lipid accumulation, microglial activation, and vitamin D receptor signaling 14:20 Building a multi-omic atlas of the Alzheimer’s brain18:01 Overview of the pathological cascade of events in the Alzheimer’s brain20:31 Anti-amyloid therapies, early intervention, and combination treatment strategies 22:24 Rotenone exposure and microglial immune activation in Parkinson’s disease29:24 Dopaminergic neuron vulnerability to pesticide exposure and mitochondrial dysfunction 31:04 Familial Parkinson’s genes, polygenic Alzheimer’s risk, and genetically targeted clinical trials33:13 Polygenic risk and microglial cell state regulation in Alzheimer’s disease34:13 Defining cell states in single cell RNA sequencing35:30 Oligodendrocyte epigenetic and transcriptional changes in Alzheimer’s disease37:23 Sarah’s most memorable hiking adventures38:58 Closing remarksFind out more:Alzheimer’s APOE microglia xenotransplantation studyRotenone exposure Parkinson’s study
- Apr 23, 202644 min
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 Podcast01:00 Welcome to guests and what Rare Disease Day means to them08:09 Balancing hope with funding, pricing, and access in advanced therapies11:48 Why patient access must be built into drug development from day one14:20 Patient engagement, community readiness, and the realities of trial participation17:49 Why early patient input is still inconsistent and often treated as a checkbox23:20 Designing trials around what actually matters to patients and families26:53 Navigating regulators, payers, and trial design constraints in rare disease therapies36:02 Redefining success in gene therapy around access, scalability, and real patient benefit43:27 Closing remarks
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About The Genetics Podcast
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.
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