265 episodios
EP 265: How blood biomarkers are changing neurology diagnostics with Joe Volpe of Labcorp
12/11/2026 | 42 minThis week on The Genetics Podcast, Patrick is joined by Dr. Joe Volpe, Executive Director, Scientific Strategy & Commercialization at Labcorp. They discuss how blood biomarkers like p-tau217 are changing Alzheimer’s diagnosis, which biomarkers are emerging in Parkinson’s disease and ALS, and what Labcorp’s real-world testing data reveals about how physicians use these tests.
Show Notes
0:00 Intro to The Genetics Podcast
00:58 Welcome to Joe
01:47 Joe’s career in HIV genetics and his move into neurology
06:35 Alzheimer’s blood biomarkers, beta amyloid, and the rise of p-tau217
11:04 Why p-tau217 works as a scalable Alzheimer’s blood test
12:35 How p-tau217 triages patients and what it can’t tell clinicians
14:08 APOE testing demand and why it predicts risk without being definitive
17:46 Where Alzheimer’s treatment and early detection go next, and what is still unknown
21:26 How Parkinson’s and ALS diagnostics are following the path Alzheimer’s took
24:09 Neurofilament light (NfL), peripherin, and DDC as emerging ALS and Parkinson’s biomarkers
27:04 Where DDC fits in Parkinson’s diagnosis compared with p-tau217
29:30 How Labcorp’s real-world testing data shows what NfL and p-tau217 are used for
34:27 How Labcorp decides which neurology biomarkers to launch and when
38:12 Future potential for migraine biomarkers that can guide treatment choices
41:07 Closing remarks- This week on The Genetics Podcast, Patrick goes solo to look at what recent AI breakthroughs in mathematics could mean for biology. He discusses the OpenAI results on the Navier-Stokes equation and hundreds of open math problems, what makes math and code so easy for AI to improve on, how self-driving labs and surrogate endpoints could speed up drug development, and where the biggest gaps and opportunities remain.
Show Notes
0:00 Intro to The Genetics Podcast
00:58 What the OpenAI math breakthroughs could mean for biology
02:57 AI’s recent frontier math results and how mathematicians reacted
09:12 Lean as a proof checker and why it matters for math
10:44 Four conditions behind AI’s math progress and how biology compares
16:22 Why verification speed decides where AI can accelerate biology
19:35 How lab automation shortens feedback loops for variants and antibodies
23:13 How validated biomarkers let early trials predict clinical outcomes
26:11 Why validated surrogate endpoints could speed up drug development
31:58 How startups and big pharma are building self-driving labs
33:40 Virtual cell models built from perturbation data
34:50 Genetics-driven drug discovery and the Phase II success rate question
37:42 Verification speed and surrogate endpoints as biology’s biggest gaps
40:38 Closing remarks EP 263: Bringing the first cardiovascular gene editing therapy to patients with Sek Kathiresan of Eli Lilly
29/10/2026 | 36 minThis week on The Genetics Podcast, Patrick is joined by Dr. Sek Kathiresan, CEO of Verve Therapeutics and SVP, Head of Obesity Research and Early Development at Eli Lilly. They discuss how protective genetic variants led to the development of a one-time gene editing therapy for heart disease in the face of early doubt, the phase one results for Verve-102, what recent trial failures mean for genetic target validation, and the unmet needs in obesity treatment.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Sek
01:40 Sek’s family history of heart disease and how it motivated him to pursue cardio therapeutics
03:29 Sek’s background and research on the genetics of coronary artery disease and protective mutations
08:03 Reactions to the Verve launch and the biological, technological, regulatory, and commercial risks
11:00 Verve-102 phase one results and the case for lifelong LDL lowering
16:14 Why cumulative exposure means lowering LDL earlier and for longer
17:53 Recent trial failures in genetically validated targets and what the Lp(a) trial leaves unanswered
20:33 Polygenic risk scores and who benefits most from LDL lowering
23:36 Sek’s new role at Lilly and the remaining unmet needs in obesity treatment
29:06 Whether one-time gene therapy could work for obesity and how GLP-1 drugs drive weight loss
30:38 Food intake, energy expenditure, and the search for new obesity mechanisms
32:15 Why Lilly is investing so heavily in genetic medicine
34:35 Closing remarks
Find out more
ANGPTL3 study in NEJM (https://pmc.ncbi.nlm.nih.gov/articles/PMC3008575/)
Verve-102 study (https://www.nejm.org/doi/10.1056/NEJMoa2601283)EP 262: The genetic drivers of hemochromatosis, drug response, and multimorbidity with Luke Pilling of the University of Exeter
22/10/2026 | 38 minThis week on The Genetics Podcast, Patrick is joined by Dr. Luke Pilling, Senior Lecturer in Genetic Epidemiology at the University of Exeter. They discuss hemochromatosis and the case for earlier diagnosis, and the genetic drivers of multimorbidity, pharmacogenetics, and drug response.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Luke
01:37 An overview of HFE hemochromatosis and why diagnosis is delayed
04:24 Iron levels and overload risk in heterozygous and compound heterozygous carriers
05:51 Aging-related effects seen in homozygotes
06:43 How hemochromatosis is currently diagnosed and detected in the UK
09:26 Future screening and case finding, including the Our Future Health cohort
11:28 Genetic and environmental factors that shape outcomes in C282Y homozygotes
13:28 The GEMINI project and the genetic drivers of multimorbidity
15:56 Drug targets from multimorbidity genetics, including repurposing and opposite effects
18:49 Using disease sequences in health records to look for earlier intervention points in multimorbidity
21:21 Data gaps limiting multimorbidity research, from primary care records to proteomics
23:17 Handling misdiagnosis and clinical code accuracy in health record research
24:55 International collaborations and the need for more diverse biobank data
26:08 Pharmacogenetics research and how genetic variants shape drug response
29:04 Limited clinical examples of pharmacogenetics and lessons from non-responders
33:08 Genetics of lifespan and healthy aging, and why geroscience pathways rarely appear in GWAS
36:06 Luke’s future research focuses
40:39 Closing remarks
Find out more:
- Hereditary hemochromatosis study
- Multimorbidity study
- Pharmacogenetics framework studyEP 261: Inside the virtual biotech staffed by AI agents with James Zou of Stanford University
15/10/2026 | 36 minThis week on The Genetics Podcast, Patrick is joined by Dr. James Zou, Associate Professor of Biomedical Data Science at Stanford University. They discuss the concept of virtual biotechs and how AI agents link single cell data to clinical trial success, Paper to Agent and turning papers into living virtual authors, clinical AI from EchoNet to SleepFM, and the role of academia alongside big AI labs.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to James
01:55 An overview of James’s virtual biotech and its AI scientist agents
04:11 How single cell evidence behind drug targets predicts clinical trial success
06:33 Behind the scenes of how autonomous the virtual biotech agents are
08:06 Missing proprietary trial data as the next gap for the virtual biotech
09:44 Scaling the number of collaborating AI agents as a new frontier for drug discovery
12:29 How teamwork and structure evolved among the agents
15:53 Behind the idea of Paper to Agent and virtual authors
19:01 What converting over 100 papers into agents revealed about reproducibility
23:14 The story behind EchoNet, an FDA-cleared AI tool for cardiac ultrasound
26:28 Predicting risk for over 100 future diseases from one night of sleep
27:40 Transferring SleepFM from sleep labs to consumer wearables
28:43 Combining multimodal health data to predict disease
30:10 Longitudinal blood proteomics as the biggest data gap for health AI
31:18 The role of academia as an open, neutral counterweight to big AI labs
32:51 How James’s path from Cambridge math and Harvard machine learning led to biology
34:41 Closing remarks
Find out more
Virtual biotech paper (https://www.science.org/doi/10.1126/science.aeg6779)
Paper2Agent paper (https://www.nature.com/articles/s41586-026-11044-y)
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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
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