The Genetics Podcast
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- 12. Nov. 2026
Über den 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. 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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EP 265: How blood biomarkers are changing neurology diagnostics with Joe Volpe of Labcorp
This 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 …
Shownotes
This 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
EP 264: What AI’s math breakthroughs mean for drug development and genetics
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 …
Shownotes
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
This 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 …
Shownotes
This 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
This 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 …
Shownotes
This 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:
EP 261: Inside the virtual biotech staffed by AI agents with James Zou of Stanford University
This 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 …
Shownotes
This 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)
EP 260: How AI is reshaping genomics, disease prediction, and biosecurity with Jeffrey Barrett of the University of Helsinki
This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Barrett, Group Leader at the Ellis Institute Finland and the University of Helsinki. They discuss using AI and federated biobank data to …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Barrett, Group Leader at the Ellis Institute Finland and the University of Helsinki. They discuss using AI and federated biobank data to stratify common chronic diseases, how LLMs reading clinical notes in Finland's health registries can reveal treatment response, how AI is changing the way scientists research and train, and what the UK's COVID genome sequencing effort means for biosecurity.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Jeff
02:08 Jeff's research focus for his new lab, including molecular subtyping of common chronic diseases with AI
06:18 Barriers to pooling biobank data across research environments for federated AI models
11:00 Why Jeff expects larger datasets to make complex models better at predicting disease
13:34 The three disease areas Jeff's lab will target first: cardiometabolic, inflammatory and neuropsychiatric
19:41 Using LLMs to read clinician notes in Finland's health registries for treatment response
24:50 How Jeff uses AI in his research and where humans still need to read and review
31:08 Using Claude to understand papers and the gaps in its literature searches
32:14 Jeff on AI solving open problems in mathematics and biology, and where researchers fit
35:48 Simultaneous discoveries and why lab data generation still needs experts
39:01 Jeff's COVID genome sequencing at Sanger and what it means for AI and biosecurity
43:16 Closing remarks
EP 259: A patient community driving awareness and research for Danon disease with Jenny Hsieh of the Danon Foundation
SummaryThis week on The Genetics Podcast, Patrick is joined by Jenny Hsieh, Co-Founder and President of the Danon Foundation. They discuss how Danon disease affects males and females, why it is so often …
Shownotes
Summary
This week on The Genetics Podcast, Patrick is joined by Jenny Hsieh, Co-Founder and President of the Danon Foundation. They discuss how Danon disease affects males and females, why it is so often misdiagnosed, the current therapy landscape and research priorities, and how families can make informed decisions about gene therapy trials.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Jenny
01:28 An overview of Danon disease
02:34 Sex differences in Danon disease and severe disease in females
05:15 Why Danon disease is misdiagnosed and how it may be spotted earlier
08:50 Therapy pipeline for Danon and the Foundation's global patient coordination
13:46 Origin story of the Danon Foundation
18:10 Research priorities and the burden of Danon disease beyond the heart
22:39 Raising genetic testing awareness among ophthalmologists and cardiologists for Danon disease
25:20 Recognizing broader Danon symptoms and launching the first Danon Awareness Day
29:37 Informed consent and trial literacy for families weighing gene therapy
33:14 Patient-friendly trial experiences
36:19 Ways to support Danon research
37:37 Closing remarks
Find out more
EP 258: The mutations hiding in healthy tissues with Inigo Martincorena of the Wellcome Sanger Institute
This week on The Genetics Podcast, Patrick is joined by Dr. Inigo Martincorena, Group Leader at the Wellcome Sanger Institute. They discuss the discovery of widespread cancer-driver mutations in normal tissue …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Inigo Martincorena, Group Leader at the Wellcome Sanger Institute. They discuss the discovery of widespread cancer-driver mutations in normal tissue, the role of somatic mutations in autoimmune disease, new sequencing technologies transforming the field, and the therapeutic potential of targeting these mutations.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Inigo
01:46 How Inigo's eyelid skin study revealed widespread cancer-driver mutations
07:14 Findings from a follow-up study on esophageal tissue
10:02 How NanoSeq technology scaled somatic mutation research across tissues
12:34 The thyroid study linking somatic mutations to autoimmune disease
17:07 How escaped B cell clones evolve into polyclonal autoimmune disease
20:21 Immune gene mutations occurring in healthy aging lymphocytes
21:21 Why driver mutation clones in normal tissue rarely become cancer
24:16 Two therapeutic paradigms for targeting somatic mutations in disease
28:13 Examples of somatic rescue mutations in the colon, liver, and blood
29:20 Why clonal selection only occurs in dividing cell types
31:20 The field's remaining blind spots in mobile immune cells and rare samples
33:46 How new single-cell sequencing will link genotype to phenotype
36:03 What Inigo has learned from collaborating across Sanger's expertise
38:09 Closing remarks
Find out more
EP 257: Managing hereditary cancer risk and medical uncertainty with Marleah Dean Kruzel of the University of South Florida
This week on The Genetics Podcast, Patrick is joined by Dr. Marleah Dean Kruzel, Professor of Communication at the University of South Florida. They discuss her personal path from watching breast cancer move …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Marleah Dean Kruzel, Professor of Communication at the University of South Florida. They discuss her personal path from watching breast cancer move through her family to testing positive for a hereditary mutation herself, the ART framework she developed for managing uncertainty, and the complexities of communicating genetic risk within families.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Marleah
01:35 Marleah's family history of breast cancer across four generations
02:48 Marleah's childhood living through her mother's five-year cancer battle
04:26 Marleah's experience with genetic testing
07:19 How a positive test result reshaped Marleah’s PhD research focus
08:40 The central challenges of living with a positive test result
10:50 The ART framework for managing hereditary cancer uncertainty
15:06 Applying the ART framework to Patrick’s experience with uncertainty and the importance of having a support system
19:53 Common misconceptions in how families communicate genetic risk
23:54 The previvor identity and the chronic uncertainty it brings
25:40 How Marleah has learned to accept and embrace uncertainty
27:57 Balancing logic and emotion in hereditary cancer family planning
31:28 How Marleah grounds her research tools in patients' lived experience
33:21 How AI is eroding our capacity to sit with uncertainty
35:57 Redesigning healthcare for a lifespan of genetic risk information
38:10 Closing remarks
EP 256: Cutting through the AI hype in drug discovery with Dave Hallett of Recursion
This week on The Genetics Podcast, Patrick is joined by Dr. David Hallett, Chief Scientific Officer at Recursion. They discuss the biggest shifts in drug discovery over Dave's three-decade career, where AI is …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. David Hallett, Chief Scientific Officer at Recursion. They discuss the biggest shifts in drug discovery over Dave's three-decade career, where AI is genuinely transforming the field today versus where the hype outruns the reality, and how Recursion's perturbational maps have uncovered and validated a novel neurodegeneration target.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Dave
01:57 The biggest shifts in drug discovery over three decades
06:39 Where AI is delivering real wins across drug discovery today
12:19 How AI-assisted trial simulation reveals which eligibility criteria to relax
14:46 The three biggest reasons drug programs fail in the clinic
18:20 How Recursion's perturbational maps uncover new drug targets
24:58 A four-step framework for validating a novel drug target
28:44 How Recursion balances deep therapeutic focus with partnership breadth
30:52 Why AI can't shortcut clinical trials, and what proof of real impact looks like
34:57 The skills scientists need most in the AI era, and why trusting AI outputs starts with trusting the data
39:52 Closing remarks
Find out more:
Recursion (https://www.recursion.com/)
EP 255: Turning long-read sequencing into a routine part of clinical care with Danny Miller of the University of Washington
This week on The Genetics Podcast, Patrick is joined by Dr. Danny Miller, Assistant Professor of Pediatrics and of Laboratory Medicine and Pathology at the University of Washington and Attending Physician at …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Danny Miller, Assistant Professor of Pediatrics and of Laboratory Medicine and Pathology at the University of Washington and Attending Physician at Seattle Children's Hospital. They discuss the case for making long-read sequencing the first genetic test every patient receives, the reference dataset his lab is building from the 1000 Genomes Project to resolve structural variants, publicly available methylation signatures as biomarkers for diagnosis and treatment response, and his vision for genome-informed care from newborn screening through the NICU.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Danny
01:41 The case for long-read sequencing as first-line genetic testing
02:52 Current barriers to wider use of long-read sequencing
04:14 Building a long-read reference dataset from 1000 Genomes for variant filtering
06:47 How long-read sequencing can solve a missed diagnosis
08:12 The clinical case for complete telomere-to-telomere genomes
10:39 What it will take to shift the clinical genetics status quo
12:06 Making methylation signatures public to diagnose disease and track therapy
15:58 Danny's path from programming and finance into clinical genetics
18:19 Danny's lived experience with deafness and achondroplasia, and how it shapes his approach to genetic counseling
21:46 Danny's optimism about AI in genomics and worry about AI in education
27:15 The path to making genomes a routine part of the medical record
29:47 The vision of same-day newborn genomic data guiding NICU treatment decisions
34:31 Closing remarks
Find out more:
Miller Lab (https://millerlaboratory.com/)
EP 254: Triangulating genetic evidence and dodging bias to pick winning drug targets with Brent Richards of 5 Prime Sciences
This week on The Genetics Podcast, Patrick is joined by Dr. Brent Richards, CEO and Founder of 5 Prime Sciences and Professor of Human Genetics, Epidemiology, and Medicine at McGill University. They discuss how …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Brent Richards, CEO and Founder of 5 Prime Sciences and Professor of Human Genetics, Epidemiology, and Medicine at McGill University. They discuss how to triangulate different types of genetic evidence to validate a drug target, why herd psychology often drives which targets get funded, why strong genetic support didn't save the Zeus IL-6 trial, and how collider bias can distort genetically stratified clinical trials.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Brent
01:43 How company size shapes access to genetic drug discovery tools
04:10 Brent's framework for triangulating different types of genetic evidence
06:50 The herd psychology behind which drug targets get funded
10:01 Potential reasons the Zeus IL-6 trial failed despite strong genetic evidence
12:49 What a gold standard genetic evidence package actually looks like
17:13 Closing the data gap with diverse genomes and systematic pipelines
19:03 The diabetes patient story that drove Brent into drug development and balancing academia with industry
25:39 Why obesity went from a drug development graveyard to its biggest frontier
29:13 How collider bias can distort genetic risk trial results
38:20 Where to go deeper on advanced genetic drug discovery concepts
40:11 Closing remarks
Find out more:
5PrimeSciences’ symposium on human genetics at ASHG2026 in October
EP 253: The genetics of brain size, growth, and aging with Andrew Jackson of the University of Edinburgh
This week on The Genetics Podcast, Patrick is joined by Dr. Andrew Jackson, Programme Leader at the MRC Human Genetics Unit at the University of Edinburgh. They discuss how his lab discovered that …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Andrew Jackson, Programme Leader at the MRC Human Genetics Unit at the University of Edinburgh. They discuss how his lab discovered that gain-of-function DNMT3A mutations cause both microcephalic dwarfism and an accelerated aging syndrome, and what that reveals about the shared biology of growth and aging.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Andrew
01:34 The origins of Andrew's work linking brain size and aging
02:54 The genetics of mammalian size range and epigenetic factors regulating growth
05:02 How DNMT3A mutations causing dwarfism led to discovering an accelerated aging syndrome
09:46 Cell number rather than cell size as the shared driver of growth and aging
13:07 Whether brain size within humans actually predicts cognitive ability
15:20 Why intellectual disability has far more known genes than dwarfism
19:26 Discovering ribonuclease H2's role in DNA repair, and its unexpected link to cancer
23:35 Why studying rare monogenic diseases reveals broader biology
26:59 Andrew's next research questions on aging, cancer, and mutation biology
28:42 Why humans, model organisms, and cell assays each have a role
31:00 Somatic mosaicism's growing role in aging and disease beyond cancer
36:11 Closing remarks
Find out more:
Mentioned studies from Andrew’s lab:
EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome
This week on The Genetics Podcast, Patrick is joined by Stevie Ringel, co-founder of Nome and founder of the Kizuna Foundation. They discuss Stevie's own ultra-rare disease diagnosis and shaped his path to …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Stevie Ringel, co-founder of Nome and founder of the Kizuna Foundation. They discuss Stevie's own ultra-rare disease diagnosis and shaped his path to founding Kizuna Foundation and Nome, how Nome's AI agents help scientists navigate the operational complexity of small-batch drug development, the technical and business model advantages underpinning Nome's accuracy, and what it will take to build a sustainable funding model for ultra-rare disease.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Stevie
01:37 Stevie's inherited retinal disease (IRD) diagnosis and subsequent path into genomics
03:16 Why Stevie founded Kizuna Foundation and why ultra-rare drug development is so operationally complex
06:27 The origin story of Nome and using AI to automate the operational work
10:09 The inspiration for the name “Nome” and who the company is built to serve
12:44 The biggest blockers to program speed
15:07 How AI and scale can bring down the cost of gene therapy manufacturing
18:01 FDA signals and global regulatory competition
19:33 Priority review vouchers and why Nome stays out of molecule IP
20:33 Nome's AI and review process for patient reports and its expansion to health systems
25:04 Nome's agent architecture and the data behind its accuracy
28:17 Why delivery remains gene therapy's biggest bottleneck and approaches for solving it
31:34 The case for a new capital model in rare disease drug development
33:25 What’s next for Nome as they advance preclinical programs
34:25 Nome’s focus on process excellence across therapeutic modalities
36:34 Closing remarks
Find out more: Nome
EP 251: Cracking the delivery barrier in genetic medicine with Jagesh Shah of Mirai Bio
This week on The Genetics Podcast, Patrick is joined by Dr. Jagesh Shah, Chief Scientific Officer at Mirai Bio. They discuss why delivery is a central bottleneck holding back nucleic acid medicines, how Mirai's …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Jagesh Shah, Chief Scientific Officer at Mirai Bio. They discuss why delivery is a central bottleneck holding back nucleic acid medicines, how Mirai's lipid nanoparticle (LNP) platform is built to reach tissues like adipocytes and T cells, and the machine learning feedback loop the company uses to engineer LNP formulations.
Show Notes
0:00 Intro to The Genetics Podcast
01:00 Welcome to Jagesh
01:40 Why delivery is the main bottleneck for gene therapies
03:42 Easier vs harder tissues to target for delivery
06:40 Overview of Mirai's modular delivery platform
09:02 Comparing viral vectors and lipid nanoparticles (LNPs)
12:18 Different approaches for targeting adipocytes and T cells with LNPs
15:49 Mirai's machine learning (ML) feedback loop for optimizing LNP formulation
20:50 Why lipid chemistry is still hard for ML to learn and factors affecting LNP tropism
24:35 Jagesh's path from academia to Mirai
27:23 Mirai's platform business model and how it lowers risk
29:13 What industry partnerships with Mirai look like
31:41 Mirai's next frontier of delivery to muscle tissue and the brain
34:40 Cargo size and immunogenicity of LNPs vs AAV
36:00 Why the field needs to close the regulatory pace gap
37:19 Closing remarks
Find out more:
EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run]
This week on The Genetics Podcast, Patrick is joined by Sharon Terry, President & CEO of Genetic Alliance. They discuss how Sharon established a layperson-led biobank, her long-term work on rare diseases and …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Sharon Terry, President & CEO of Genetic Alliance. They discuss how Sharon established a layperson-led biobank, her long-term work on rare diseases and patient advocacy, and her program to bring genetic technology to patients in low- to middle-income countries. We’re re-running this episode for its enduring lessons on patient advocacy, rare disease parenting, communication, and citizen science.
Show Notes0:00 Intro to The Genetics Podcast
00:59 Welcome to Sharon and a discussion of the personal experience with rare disease that started her journey
03:47 Reasons Sharon decided to establish the first layperson-led biobank
05:34 Challenges with setting up the biobank infrastructure
07:00 Balancing financial factors in a non-profit organization
09:30 Recent patterns and future insight into rare disease drug discovery framework and regulation
15:32 Barriers to widespread collaboration and cooperation in rare disease research, and why it should be approached from a public health perspective
18:12 Background and experiences from the iHope Genetic Health program in low- to middle-income countries
24:44 Sharon’s perspective on challenges with the Genetic Information Non-discrimination Act
28:49 Sharon’s lessons learned in her patient advocacy and policy work, and her hopes for future legislation
33:04 Sharon’s hopes for improved access to genetic testing and treatment for children in underserved communities
34:34 How Sharon learned about rare diseases and genetics as a “homeschooling mom without a degree”
37:54 Insights into how elements of spirituality can support advocacy work
40:18 Closing remarks
EP 249: Building the world's most detailed genetic map of inflammatory bowel disease with Carl Anderson of the Wellcome Sanger Institute
This week on The Genetics Podcast, Patrick is joined by Dr. Carl Anderson, Senior Group Leader and Head of the Human Genetics Programme at the Wellcome Sanger Institute, where he leads the Genomics of …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Carl Anderson, Senior Group Leader and Head of the Human Genetics Programme at the Wellcome Sanger Institute, where he leads the Genomics of Inflammation and Immunity Group. They discuss IBDVerse, the single-cell atlas Carl's team built to map genetic effects on gene regulation across gut cell types, how coding and non-coding variants converge on shared biological pathways in inflammatory bowel disease, and Carl's vision for longitudinal multi-omics cohorts built around the sickest and most underrepresented hospital patients.
Show Notes
0:00 Intro to The Genetics Podcast
00:58 Welcome to Carl
02:05 The origins of IBDVerse and mapping genetic effects on gene regulation across gut cell types in IBD
05:43 How anti-TNFs and newer genetically-supported IBD drugs have reshaped treatment
08:04 Genetic versus environmental contributions to IBD
09:53 Using single-cell data to uncover IBD disease subtypes
13:22 Drug sequencing and immunogenicity in treatment response
16:52 The backstory of building the IBDVerse atlas at scale
20:29 How coding and non-coding IBD variants converge on the same genes and pathways
23:38 The case for pathway-specific polygenic risk scores
28:17 Building a longitudinal multi-omics dataset to predict IBD progression and drug response
30:08 Why Sanger's next cohort targets sick and underrepresented patients rather than healthy volunteers
34:07 What Carl looks for when interviewing PhD students and faculty candidates
39:20 A call to junior scientists and closing remarks
Find out more:
EP 248: The blood mutations rewriting cardiovascular risk: Clonal hematopoiesis and polygenic risk with Pradeep Natarajan of Massachusetts General Hospital
This week on The Genetics Podcast, Patrick is joined by Dr. Pradeep Natarajan, Director of Preventive Cardiology at Massachusetts General Hospital and Associate Professor of Medicine at Harvard Medical School …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Pradeep Natarajan, Director of Preventive Cardiology at Massachusetts General Hospital and Associate Professor of Medicine at Harvard Medical School. They discuss the discovery of clonal hematopoiesis as a driver of cardiovascular disease, the inflammatory mechanisms and emerging therapies targeting it, the growing clinical case for polygenic risk scores, and Pradeep's upcoming move to lead cardiometabolic and human genetics research at Amgen.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Pradeep
01:30 The origin story of clonal hematopoiesis (CH) as a cardiovascular risk factor
09:41 CH mutations such as TET2 that are linked to cardiovascular disease
12:27 Evidence tying inflammation to CH and drugs that could target it
16:49 TenSixteen Bio’s strategy for targeting CH and the challenge of finding the right patients
21:33 Trajectory of CH across age and somatic mosaicism beyond blood
26:44 How polygenic risk scores fill a gap in cardiovascular risk prediction
34:49 The future clinical applications of polygenic risk scores
39:20 The challenge of standardizing polygenic risk scores for clinical and regulatory use
42:27 Pradeep's move to pharmaceutical company Amgen and his reasons for it
46:23 Closing remarks
Find out more:
Clonal hematopoiesis paper
EP 247: Why neurons accumulate mutations like clockwork: Somatic mosaicism and neurodegeneration with Christopher Walsh of Boston Children's Hospital
This week on The Genetics Podcast, Patrick is joined by Dr. Christopher Walsh, Professor of Pediatrics and Neurology at Harvard Medical School, Chief of Genetics and Genomics at Boston Children's Hospital, and …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Dr. Christopher Walsh, Professor of Pediatrics and Neurology at Harvard Medical School, Chief of Genetics and Genomics at Boston Children's Hospital, and HHMI Investigator. They discuss his path from neurobiology to human genetics, how somatic mosaicism in the brain drives disease from epilepsy to Alzheimer's, and what this reveals about new therapeutic targets for neurodegeneration.
Show Notes
0:00 Intro to The Genetics Podcast
00:59 Welcome to Chris
01:18 Chris’ path from neurobiology to human genetics
04:55 How collaboration and mentorship have shaped Chris' career
06:59 Somatic mosaicism and genetic mutations in the brain, from epilepsy to Alzheimer’s
13:56 Repurposing cancer therapeutics and targeting DNA damage as new approaches to Alzheimer's
15:29 A shared pattern of DNA damage across neurodegenerative diseases and the mechanism behind it
19:36 How healthy neurons accumulate mutations with age and what that means for the brain
23:21 How mutation rates and patterns vary across cell types
26:23 How genome quality control and synaptic pruning may explain both brain development and neurodegeneration
30:33 Why some people maintain a healthy brain into old age
33:57 Chris’ advice for early-career scientists on pursuing goals
36:43 Closing remarks
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EP 246: Turning a fatal diagnosis into a cure strategy: Accelerating C9orf72 ALS research with Yentli Soto Albrecht of CureC9
This week on The Genetics Podcast, Patrick is joined by Yentli Soto Albrecht, physician-scientist in training and founder of CureC9. They discuss how losing her father to C9orf72 ALS, and later learning her own …
Shownotes
This week on The Genetics Podcast, Patrick is joined by Yentli Soto Albrecht, physician-scientist in training and founder of CureC9. They discuss how losing her father to C9orf72 ALS, and later learning her own genetic risk, reshaped the direction of her career. The conversation explores the biology linking the C9 repeat expansion to ALS and FTD, and how CureC9 is removing barriers across biomarkers, therapeutics, and patient samples to accelerate progress toward a cure.
Show Notes
0:00 Intro to The Genetics Podcast
00:58 Welcome to Yentli
02:34 How Yentli's father's C9 ALS diagnosis and her own genetic risk led her to pivot her research career toward curing it
06:41 The biology of the C9orf72 repeat expansion and how TDP-43 dysregulation links it to ALS and FTD
11:40 Therapeutic strategies targeting TDP-43 pathology in ALS and FTD
15:35 The state of biomarkers for ALS and FTD, and why C9-FTD trials lag behind ALS
22:08 How Yentli is lowering barriers for biomarker, cell line, and drug development through CureC9
30:40 Call for collaborators and where to follow Yentli
32:59 Closing remarks
Find out more: CureC9
EP 245: Developing targeted therapies for ALS with Eric Green of Trace Neuroscience [Re-run]
This week on The Genetics Podcast, we're re-airing our conversation with Eric Green, Founder and CEO of Trace Neuroscience, Co-Founder and Chief Scientific Officer at Maze Therapeutics, and Adjunct Clinical …
Shownotes
This week on The Genetics Podcast, we're re-airing our conversation with Eric Green, Founder and CEO of Trace Neuroscience, Co-Founder and Chief Scientific Officer at Maze Therapeutics, and Adjunct Clinical Assistant Professor at Stanford University School of Medicine. Patrick and Eric discuss Eric's transition from cardiology to entrepreneurship, the role of highly focused biotechs in creating precision therapies, and the development of high-impact gene therapies for people with amyotrophic lateral sclerosis (ALS). We're revisiting this episode following Trace Neuroscience's recent announcement that the first patient has been dosed with its antisense oligonucleotide (ASO) designed to restore UNC13A function in ALS.
Show Notes
0:00 Intro to The Genetics Podcast
02:03 Welcome to Eric, his background in cardiology, and how he got into biotech
06:23 Eric’s experience incubating and spinning out early-stage companies with Third Rock Ventures and developing Maze Therapeutics
09:13 Eric’s decision to transition from academia to the world of biotech
11:24 Building Maze Therapeutics and Eric’s focus on and genetic modifiers to discover new drugs
15:09 The growth of therapeutic modalities in the context of genetics and gene therapies
16:48 What led Eric to launch Trace Neuroscience to develop ALS therapies
28:35 The process of getting Trace’s ALS therapies into the clinic
32:22 The identification of therapeutic value in low odds ratio genes
35:58 Eric’s view on the APOA1 gene target and its major effect size in kidney disease
40:03 How best to integrate genetics and genetic discovery into small and medium biotechs
41:50 Closing remarks
Find out more
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 …
Shownotes
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
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 …
Shownotes
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
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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 …
Shownotes
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 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
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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 …
Shownotes
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
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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 …
Shownotes
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
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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 …
Shownotes
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
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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 …
Shownotes
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
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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 …
Shownotes
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
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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 …
Shownotes
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
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