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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
The most recent episodes — sign up to get AI-powered summaries of each one.
- Yesterday42 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!
- 1 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
- 2 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!
- 3 weeks ago40 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
- 4 weeks ago39 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
- Apr 16, 202639 min
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 Notes0:00 Intro to The Genetics Podcast00:59 Welcome to Suzanne01:35 Neurobiology of Alzheimer’s disease and how it differs from dementia06:22 Presymptomatic changes to phosphorylated tau (p-tau) in the brain07:36 The role of the APOE gene in Alzheimer’s09:07 Differences in neuropathology in women vs men with Alzheimer’s10:19 Rare cases where amyloid and tau pathology do not align in Alzheimer’s12:37 Using plasma p-tau217 trajectories to estimate when Alzheimer’s symptoms may begin17:30 Using p-tau217 to select clinical trial participants and predict progression timelines20:59 Overview of therapeutic strategies in Alzheimer’s disease24:24 Why APOE effects may not appear in p-tau217 measurements26:30 Combining biomarkers and clinical phenotyping to understand disease progression in Alzheimer’s30:08 Early-onset vs late-onset Alzheimer’s and differences in clinical presentation31:45 Expanding beyond p-tau217 to proteomics and multimodal biomarkers for predicting symptoms33:52 MTBR-tau243 as a more specific marker of tau pathology and Alzheimer’s symptoms37:31 Expanding biomarkers beyond Alzheimer’s and bringing blood tests into clinical practice38:49 Closing remarksFind out more:Phosphorylated tau217 studyMTBR-tau243 study
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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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