This week on The Genetics Podcast, Patrick is joined by Terry Pirovolakis, CEO and Founder of Elpida Therapeutics. They discuss Terry’s journey to create a life-saving gene therapy for his son, the founding of Elpida Therapeutics to bring hope to families with ultra-rare diseases, and the challenges of scaling therapies that aren’t commercially viable.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Terry
01:24 The beginning of Terry’s gene therapy journey after his son Michael was diagnosed with SPG50
03:24 Learning the biotech industry and building a gene therapy team
05:17 Terry’s experience with learning about gene therapy without a scientific background
06:42 The process of building a gene therapy in under three years during the COVID-19 pandemic
09:30 Fundraising through community support and major donors
11:06 Expanding access of Michael’s gene therapy to children all over the world
12:32 The creation of Elpida Therapeutics to develop non-commercially viable therapies and adapting to a challenging funding landscape
15:24 Insight into cost, accessibility, and the role of endpoints and manufacturing
20:06 Learning from safety events as gene therapy scales and the importance of considering the risk/reward ratio in rare disease
23:24 Landscape of precision therapeutics available today beyond AAV vectors
27:09 Designing trials at Elpida to demonstrate efficacy in ultra-rare disease
29:24 Adapting meaningful endpoints to disease progression and FDA flexibility
34:02 Background of Priority Review Vouchers and the negative impact of its non-renewal on rare disease funding
37:48 Finding optimism in rare disease family initiatives and gene therapy successes, and the future of advanced therapeutics
41:07 How to support the rare disease community and families
44:16 Closing remarks
Find out more
Elpida Therapeutics (https://www.elpidatx.com/)
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
This week on The Genetics Podcast, Patrick is joined by Samuli Ripatti, Director of the Institute for Molecular Medicine Finland (FIMM), Vice Director at HiLIFE, and Professor of Biometry at the University of Helsinki. They discuss Samuli’s research on lipid and cardiovascular genetics, how polygenic risk scores are moving into clinical care, and the power of the FinnGen biobank.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Samuli
01:48 Samuli’s path from statistics to genetics at the beginning of a new era
03:09 Remembering Leena Peltonen and the Human Genetics Summer School
05:46 Samuli’s research in lipid and cardiovascular genetics and the power of collaboration
09:14 Integrating polygenic risk scores into cardiovascular and breast cancer care
14:52 Using medication history in FinnGen to uncover cardiometabolic genetics and predict treatment patterns
18:50 The future of polygenic risk scores in predicting prognosis and guiding treatment
21:21 The confounding effect of treatment in genetic studies
23:14 Overview of FinnGen and its impact on genetics and drug discovery
27:04 The next 5 years in proteomics and molecular profiling to move beyond associations
29:56 Using polygenic risk scores in clinical trials
31:41 Future directions, from refining phenotypes in large biobanks to piloting clinical applications of polygenic risk scores
34:04 Scaling population biobanks versus deep phenotyping and why the future requires both
35:29 Closing remarks
Find out more
Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases (https://www.nature.com/articles/s41591-022-02122-5)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, Patrick is joined by Jonathan Marchini, Head of Statistical Genetics and Machine Learning at the Regeneron Genetics Center. They discuss Jonathan’s pioneering role in developing computational methods from the HapMap era through to today, how those innovations underpin large-scale imputation and analysis, and why exomes with imputation remain more powerful than whole genomes for discovery at Regeneron.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Jonathan
01:47 Jonathan’s career path from teaching in rural Tanzania to genomics research at Oxford
04:43 Lessons from the HapMap era and the birth of imputation
08:30 Ongoing challenges with data sharing and usable tools
10:30 Handling massive genetic datasets at Regeneron and developing new computational methods to scale
15:26 Key discoveries from the million-exome paper
18:04 Pushing computational limits in meta-analysis
19:50 Polygenic risk scores in the clinic and their role in trial design
23:38 Why Regeneron prioritizes exomes with imputation over whole genomes and what that means for discovery
27:58 Where AI truly adds value in genomics and where simpler models still win
32:27 Interpreting rare variants, the promise of protein models, and why better phenotyping is key
35:31 Closing remarks and opportunities at Regeneron
Find out more
Regeneron Genetics Center (https://www.regeneron.com/science/genetics-center)
Million exome paper (https://www.nature.com/articles/s41586-024-07556-0)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, Patrick is joined by Max Bronstein, CEO of Aviva Strategies. They discuss the shifting regulatory and political landscape shaping biotech, the realities of today’s drug development process, and why new incentives and flexible trial pathways are critical to advancing rare and ultra-rare disease therapies.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Max
01:51 Regulatory shifts and FDA challenges under the new administration
05:40 Overview of the regulatory process for therapeutic development and the push for patient-centered trials
11:26 Challenges in drug development from regulatory gaps to shifting FDA priorities
15:45 Unprecedented government turnover and its impact on biotech industry stability
18:32 Status and significance of the pediatric priority review voucher program for rare and ultra-rare disease development
22:02 How Congress uses “must-pass bills” to advance or block health policies
25:17 Max’s role in creating Advanced Research Projects Agency for Health (ARPA-H) to drive high-risk innovation
30:02 How ARPA-H is funded
31:21 Adapting science policy to politics
33:35 Breakthroughs in rare disease therapies and the policy frameworks needed to ensure access
37:15 Lessons from the Orphan Drug Act and why new incentives are needed to make ultra-rare disease drug development viable
39:23 The push for flexible rare disease trial pathways and the disconnect between FDA rhetoric and practice
43:26 Closing remarks and a call to connect for patient organizations and rare disease parents
Find out more
Aviva Strategies (https://www.avivastrategies.com/)
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
This week on The Genetics Podcast, Patrick is joined by Richard Wilson, Senior Vice President, Primary Focus Lead of Genetic Regulation at Astellas. They discuss where the gene therapy field stands today, diving into successes, persistent barriers, regulatory considerations, manufacturing strategies, and other reflections on important approaches to precision medicine drug development.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Richard
01:33 Current wins and challenges in gene therapy
07:13 The need for more open non-competitive data sharing and a clearer pathway towards reimbursement and incentivization
11:15 Building post-approval systems into the genomic medicine lifecycle
14:47 Rethinking evidence standards in rare disease trials, and the global push for regulatory and reimbursement alignment
20:28 Genetic medicine breakthroughs in central nervous system diseases
22:25 The challenges of starting clinical development with an end in mind
24:34 The need for careful analysis around endpoints, vector design, and delivery approaches
29:33 Navigating regulatory hurdles when making mid-program changes to vectors or payloads
31:16 Strategies for enhancing scalability and quality of gene therapy manufacturing
36:05 Exploring other delivery methods beyond AAV
39:32 Getting ready for the Timmerman Traverse and raising nearly $1M for Life Science Cares
43:48 A call to refocus on patients, partnership, and purpose in uncertain times
45:55 Closing remarks
Find out more
Astellas (https://www.astellas.com/)
Timmerman Traverse fundraising for Life Science Cares (https://timmermantraverse.blackbaud-sites.com/)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, we celebrate our 200th episode with a look back at some of the earliest episodes, particularly ones that foresaw major trends or went on to spark real-world impact. These include Eric Topol’s early predictions about AI in healthcare, Laurence Reid’s vision for gene therapy in hearing loss, Sir Rory Collins on the potential impact of the UK Biobank, Daphne Koller on uniting biology and machine learning, and Vineeta Agarwala on harnessing large datasets for drug discovery. Patrick adds updates and reflections on how these bold ideas have shaped the genomics and biotech landscape.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Overview of episode content and guests featured
01:47 Eric Topol predicts the role of AI in healthcare in 2019
05:58 Patrick’s reflections on AI’s progress today and future potential
06:57 Laurence Reid outlines Decibel Therapeutics’ gene therapy plans for otoferlin-related hearing loss
10:58 Patrick’s updates on Decibel’s success and acquisition by Regeneron
11:44 Sir Rory Collins on the creation and vision of the UK Biobank
18:20 Patrick on the lasting impact of open science and the UK Biobank
19:10 Daphne Koller on building insitro to fuse biology and machine learning
24:30 Patrick on the future of large-language models in biology
25:55 Vineeta Agarwala on investing in large datasets for drug discovery
32:24 Patrick on applying multi-omic data to rare disease research
32:52 Closing remarks
Find out more
The Genetics Podcast is now on Instagram! Follow us for clips from recent episodes and release announcements (https://www.instagram.com/thegeneticspodcast/).
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, Patrick is joined by Xin Jin, Associate Professor in the Department of Neuroscience at The Scripps Research Institute. They discuss how in vivo Perturb-seq enables scalable and high-resolution modeling of neurogenetic disorders like autism, how introducing mutations directly into living mouse brains reveals cell-type vulnerabilities and convergent pathways, and why this approach could transform therapeutic development by identifying shared mechanisms across diverse genetic mutations.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Xin
01:52 Overview of in vivo Perturb-seq
05:10 Identifying de novo variants in autism spectrum disorder
09:00 Using perturbations to map how autism-linked mutations affect specific brain cell types
13:04 Applying Perturb-seq to other brain diseases
14:30 In vivo versus in vitro models and extending genetic screening approaches beyond the brain
18:44 Using in vivo models to trace variant effects, rank gene drivers, and uncover therapeutic pathways
22:35 Conservation of genes between mouse and human in the context of neurodevelopmental disease modeling
24:21 Impact of genetic discoveries on drug development by convergence onto common pathways
27:22 Xin’s early interest in science through her grandfather’s work in plant taxonomy and botany
29:48 Xin’s path from China to MIT and how early research shaped her scientific mindset
31:58 Reflections on AI’s rapid progress and limits in biology, and the need for new models
37:21 Closing remarks
Find out more
Jin lab (https://www.jin.scripps.edu/)
In vivo Perturb-seq explainer video (https://vimeo.com/549737357)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, Patrick is joined by Benny Sorensen, CEO of Hemab Therapeutics. They discuss how Hemab is reimagining clotting therapies by centering patient voices, how persistence and being “unreasonable” led to their first program, and the value of their multi-modality and collaborative approach.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Benny
01:49 Reimagining blood clotting therapies by listening to lived experience and embracing the biotech revolution
04:27 How persistence and patient voices sparked Hemab’s first drug development program
07:13 Overview of Glanzmann Thrombasthenia (GT) and Hemab’s antibody-based approach
10:09 Evolution of hemophilia treatment and neglected blood clotting disorders
14:18 Genetic and gender considerations around bleeding disorders
17:41 Hemab’s range of therapeutic modalities and the value of collaboration
21:00 Why deep domain expertise drives Hemab’s strategy and success
22:55 Lessons from the drug development process
24:16 Global insights into gender bias, health inequality, and bleeding disorder care
26:46 Upcoming milestones at Hemab
29:52 Lessons from running natural history studies to capture the patient experience
33:25 Redefining the patient journey through data
34:40 How Benny’s experience at Alnylam Therapeutics shaped his “unreasonable” leadership
38:16 Reflections on being a father and a CEO
40:38 Closing remarks and Benny’s commitment to thoughtful drug development
Find out more
Hemab Therapeutics (https://www.hemab.com/)
Hemab trial register (https://shorturl.at/8AAQN)
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
Summary:
This week on The Genetics Podcast, Patrick is joined by Heiko Runz, medical geneticist and VP of Neuroscience at insitro. They discuss Heiko’s path into therapeutic genetics, how collaboration and data integration across biobanks led to his discovery of a protective variant for age-related macular degeneration, and the role of cell-based models in drug discovery.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Heiko
01:41 Heiko’s career path and how he became interested in medical genetics and therapeutic development
05:49 Connecting the dots across biobanks for genetic discovery
08:23 Heiko’s discovery of a potential gene target for age-related macular degeneration
15:29 The challenge of biobank recontact and why it’s essential for follow-up studies
18:57 The opportunity for smaller companies to follow up on large-scale genomic discoveries
23:00 Advances in cell-based models for neuroscience drug discovery
24:40 Heiko’s role in the development of tofersen for SOD1 ALS
28:50 Targeting TDP-43 in ALS through large-scale cell-based phenotyping and drug discovery
30:36 Using cell-based phenotypes to functionally test disease mechanisms and validate variants
33:58 The potential of AI for refining phenotypes and generating drug hypotheses
36:47 Heiko’s advice to early career professionals interested in the field of genetics and drug discovery
38:26 Closing remarks
Find out more
insitro (https://www.insitro.com), study on CFHR5 (https://www.nature.com/articles/s41467-025-61193-3)
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
This week on The Genetics Podcast, Patrick is joined by Molly He, CEO and co-founder of Element Biosciences. They discuss the current landscape of sequencing technologies, Element’s innovative sequencing platform, and the potential of using in-sample multiomic profiling across different stages of drug discovery.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Molly
01:42 Persistent barriers in precision medicine
04:54 Limitations of multiomics technologies and the unique advantage of Element’s approach
07:33 How Element started by inventing an ambitious sequencing instrument
11:33 Overview of the chemistry behind Element’s sequencing technology
14:41 Sequencing workflow of Element’s technology and technical advantages
18:24 Sequencing inside cells and drug discovery insights from a study on tyrosine kinase inhibitor (TKI) resistance pathways
25:57 Sequencing for CRISPR perturbation and direct genotype–phenotype linkage in the same cell
27:33 Whole-transcriptome in situ sequencing and applications in patient samples
29:19 Simplifying single-cell transcriptomics with direct in-sample sequencing
30:31 Applying the single-cell spatial technology to different steps of the drug discovery process
36:43 Competition in the sequencing industry and recent news about Illumina filing a patent infringement case against Element
38:43 Lessons from building Element over eight years
40:32 Insight into maintaining a cohesive culture as Element has multiplied in size and across countries
42:06 The importance of input data quality for AI applications and excitement about the possibility of predicting biology
45:40 Closing remarks
Find out more
Element Biosciences (https://www.elementbiosciences.com/)
Pre-print (https://www.biorxiv.org/content/10.1101/2025.05.06.652479v1)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Summary:
This week on The Genetics Podcast, Patrick is joined by David Bumcrot, Chief Scientific Officer of CAMP4 Therapeutics. They discuss David’s involvement in the development of the breakthrough technologies in RNA interference and CRISPR, how CAMP4 is pioneering the use of regulatory RNAs to treat haploinsufficient diseases, and the complexities of gene regulation.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to David
01:57 David’s experiences at companies that developed RNA interference (RNAi) and CRISPR technologies
04:05 Lessons from translating RNAi to the bedside
05:58 The scalable chemistry of RNA versus the complexity of gene editing
07:48 Insight into the lack of rapid scalability and growth in gene therapy companies
09:19 How CAMP4 is using regulatory RNAs to boost gene expression in haploinsufficient diseases
13:01 Mapping and predicting the impact of specific regulatory RNAs on the expression of target genes
15:05 Why regulatory RNAs open up new target space without needing new drug modalities
16:27 How CAMP4 prioritizes certain diseases based on delivery feasibility and genetic evidence
18:31 Understanding expression thresholds in haploinsufficiency and building confidence in therapeutic targets
20:29 Comparing different approaches for increasing gene expression
22:39 Other therapeutic areas of focus for CAMP4, including urea cycle disorders and central nervous system (CNS) disorders
25:47 Lessons from early clinical development and engaging regulators on novel targets
27:47 Building high-resolution regulatory RNA maps beyond what public datasets can provide
31:04 Considerations around the treatment window for SYNGAP1
32:40 The value of collaborative frameworks for rapid therapy development
35:20 Rethinking early safety assessment and global regulatory strategies for RNA therapies
38:37 The importance of basic science, staying optimistic, and continuing to invest in biotech innovation
40:18 Closing remarks
Find out more
CAMP4 Therapeutics (https://www.camp4tx.com)
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
Summary:
This week on The Genetics Podcast, Patrick is joined by Melissa Haendel, Director of Translational Informatics and Precision Health and Professor at the University of North Carolina at Chapel Hill, and Phenotypic Lead at Alamya Health. They discuss the limitations of electronic health records for rare disease diagnostics, how patient self-reporting can enhance diagnosis, expanding access to genomic testing in underserved settings, and the challenges and promise of national-scale health data infrastructure.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Melissa
02:05 Melissa’s career path, beginning with finding her first professorship on Craigslist
04:24 The fundamentals of ontology and how it can help identify common molecular mechanisms across different rare diseases
06:29 Why key rare disease details are missing from electronic health records (EHRs) and how ontologies and AI can help
11:33 How patient self-reporting using layperson phenotypic terms was associated with strong diagnostic performance
15:27 Why recognizing multi-system patterns is key for diagnosing rare conditions and how tools like pattern-based screening are improving outcomes
17:41 How Alamya Health is expanding access to genomic diagnostics by building local lab infrastructure in underserved communities
22:03 How Alamya’s single-test, AI-powered approach helps solve complex cases in underserved settings
24:18 Rethinking the true cost of delayed diagnosis, from wasted testing to the societal and family burden
26:10 What it takes to do national-scale health data research in the U.S. and a vision of real-world data as a public utility
33:37 Opening up access to national EHR data for research through health data networks
36:15 The gap between real-world data and clinical research and why improving data quality benefits both care and science
38:34 A major upcoming milestone in bringing unified rare disease codes into US healthcare with the Mondo ontology
41:22 Closing remarks
Find out more
TIS Lab (https://tislab.org/), Alamya Health (https://www.alamyahealth.com/)
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
Summary:
This week on The Genetics Podcast, Patrick is joined by Frank Gentile, Chief Executive Officer of Casma Therapeutics. They discuss the role of autophagy in neurodegenerative diseases, Casma’s work on therapies for Gaucher’s disease and Parkinson’s disease, and the challenges and opportunities in rare disease biotech.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Frank
02:00 Origin story for Casma Therapeutics and its therapeutic focus on autophagy
04:51 Diseases in which autophagy is dysregulated
07:46 The link between GBA1 and Parkinson’s, and why so many neurodegenerative diseases exhibit autophagy defects
12:28 Findings from Casma Therapeutics’ preclinical studies and associated mechanisms
16:46 Milestones and design of Casma Therapeutics’ upcoming clinical studies
20:24 Well-characterized cohorts of GDPD patients from natural history studies
21:55 Identifying alternative therapeutic targets involved in autophagy initiation that are mTOR independent
24:46 The negative effects of broad inhibition of mTOR
25:57 Advantages and disadvantages of using small molecule therapy versus broader gene therapy
26:59 Frank’s experience in investment and his approach to risk
29:15 Frank’s perspective on the current biotech climate and how investors view rare disease
32:16 Extending lead candidate and portfolio strategy to other therapeutic applications
34:15 Partnering opportunities and future potential of the TRPML1 program across neurodegenerative diseases
35:50 A potential link between autophagy pathways and longevity
37:20 Closing remarks
Find out more
Casma Therapeutics (https://www.casmatx.com/)
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
Summary:
This week on The Genetics Podcast, Patrick is joined by Huma Qamar, Chief Medical Officer at Ocugen. They discuss her journey from arriving in the US with $88 in her pocket to leading gene therapy programs, Ocugen’s breakthrough in retinal disease, and how gene-agnostic therapies could transform treatment for conditions like retinitis pigmentosa.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Huma
01:40 How Huma arrived in the US from Pakistan with $88 and went on to do medical training and research at Yale and Harvard
06:47 Huma’s approach to challenges throughout her journey and how networking helped boost her career
09:30 Ocugen’s mission to develop therapies for retinal disease and recent successes, including obtaining pediatric breakthrough designation
12:10 Technical advantages and disadvantages of Ocugen’s retinal gene therapy
15:18 Insights from Huma’s experience across gene therapy trials versus oncology trials
19:17 Clinical landscape and genetic mutations in retinitis pigmentosa and the advantage of Ocugen’s gene-agnostic and gene modifier platform
23:17 Therapy mechanism of reactivating degenerating photoreceptors via master regulators
26:32 Clinical trial design and regulatory considerations
29:15 Huma’s vision and hopes for retinal diseases over the next 5-10 years
30:20 Huma’s experience as an interpreter and dedication to supporting immigrants and refugees
32:12 Closing remarks and Huma’s message to women and patients
Find out more
Ocugen (https://ocugen.com/)
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
This week on The Genetics Podcast, Patrick is joined by Andres Moreno-Estrada, population geneticist and head of the Human Evolutionary Genomics Lab at LANGEBIO in Mexico. They discuss the creation and insights of the Mexican Biobank, the genetic diversity of Latin America, ancient human migration, and the role of locally-led research in shaping public health and scientific equity.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Andres
01:56 Andres’ motivation to pursue genetics
03:01 How and why Andres established the Mexican biobank with genotyping of more than 6,000 people
07:25 Surprising findings on ancestry and regional similarities from the Mexican biobank
09:26 Links between Indigenous ancestry, BMI, and disease-related traits
12:36 Reconstructing population history from the Mexican biobank
20:16 Tracing a single ancient contact between South America and Polynesia through shared Indigenous DNA
21:58 Collaborative genomics efforts across Latin America and the launch of a regional Human Cell Atlas
26:39 How biobanks can inform national health decisions and why prioritization is the missing link in Mexico
32:10 Public health applications of genetic data and the need for local and regional biobanks
35:17 How ancient DNA reveals early cultural mixing and the deep roots of Mexico’s Day of the Dead traditions
39:12 Closing remarks and a call for support and investment in locally-led science across Latin America and beyond
Find out more
Moreno Lab (http://www.morenolab.org/)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Summary:
This week on The Genetics Podcast, Patrick is joined by Frank Gleeson, co-founder and CEO of Satellos. They discuss Satellos’ novel approach to treating Duchenne Muscular Dystrophy by targeting muscle stem cell regeneration, how this fills a critical therapeutic gap, and the promising results of their early clinical trials. They also touch on what it takes to advance drug development and secure funding in today’s biotech landscape.
Show Notes:
0:00 Intro to The Genetics Podcast
01:00 Welcome to Frank and the origin story for Satellos and its focus on muscle stem cell regeneration to treat Duchenne Muscular Dystrophy (DMD)
14:03 Counteracting degeneration in DMD and associated mechanisms
16:08 Current therapeutic focuses in DMD, including gene therapy and exon skipping to increase expression of dystrophin
24:28 Satellos’ drug development strategy, safety-first design, and early clinical findings in adults with DMD
35:54 The study design and number of patients for Satellos’ phase 2 trial
40:12 Frank’s recommendations for how biotechs can raise funding in today’s climate
44:38 Advantages of Frank’s career path across business and venture capital to biotech
46:52 Closing remarks
Find out more
Satellos (https://satellos.com/)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Summary:
This week on The Genetics Podcast, Patrick is joined by Tim Spector, Professor of Genetic Epidemiology at King’s College London and co-founder of Zoe. They discuss surprising insights on heritability from decades of twin research, the profound impact of the microbiome on health and disease, and the effect of diet on the gut microbiome.
Show Notes:
0:00 Intro to The Genetics Podcast
00:58 Welcome to Tim and his journey from clinical medicine to pioneering twin studies and uncovering the heritability of diseases and traits
07:20 Exploring missing heritability and why twin studies and GWAS offer different answers
10:37 What a global mega twin registry could reveal about epigenetics, environment, and disease
13:40 Findings from a twin microbiome study and how that evolved into a new chapter in Tim’s research career
16:50 The profound impact of the microbiome on health
21:08 Evolution in microbiome research techniques, microbe-diet associations, and the need for longitudinal studies
27:00 Potential reasons why fecal transplant did not turn out to be as effective as predicted
28:53 The importance of balance in the gut microbiome and how it can be involved in cancer and the drug response
35:54 Barriers to translating microbiome science into healthcare
38:38 The impact of microplastics and ultra-processed foods on the microbiome
41:27 Moving away from diversity measures for evaluating the microbiome and towards a more comprehensive score metric
44:36 Closing remarks with information on Tim’s upcoming book as well as Zoe products and app
Find out more
Zoe (https://zoe.com)
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
Summary:
This week on The Genetics Podcast, Patrick is joined by Daniel Geschwind, Professor, Senior Associate Dean, and Associate Vice Chancellor of Precision Health at UCLA. They discuss the circuitous career path that led Daniel to building a biobank that provided the foundation for autism genetics, the complexity of the molecular and genetic aspects of autism, and how gene therapies could advance treatment.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Daniel and how he transitioned from being a chemistry teacher and consultant to an academic clinician
05:51 How a year filming ski movies helped Daniel decide what he wanted to do after college
07:29 How Daniel got started in autism research and established a biobank that built the foundation for autism genetics
11:38 Our current understanding of autism on the molecular and genetic levels
18:04 The spectrum nature of autism and how it correlates to molecular and genetic differences
25:13 The potential convergence of variants of autism on common pathways and corresponding therapeutics
31:18 Evidence for the early developmental etiology of autism and the complexity of the genetic aspect
35:56 The developmental window for gene therapies in autism and the need for concurrent training
38:41 Successes and barriers to data sharing and collaboration, and the importance of biobanks and functional mapping
51:40 Developing computational tools for a network approach to transcriptomes
55:28 Closing remarks
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
Summary:
This week on The Genetics Podcast, Patrick is joined by Helen O’Neill, molecular geneticist, founder of Hertility Health, and associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubborn perceptions and sensational headlines continue to cast a shadow over the gene editing field, despite major scientific progress.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Helen and an overview of her career path and how being an identical twin sparked her interest in genetics
04:57 Technology shifts in embryonic and fetal biology over the span of Helen’s career
06:44 Helen’s firsthand account and reflections on the 2018 CRISPR baby controversy
11:56 Evolution of gene editing in the face of a stubborn perception of it
15:17 Findings from Helen’s recent study on the impact of genetic screening on embryo viability and the case for genome editing in IVF patients
20:09 The stalled progress of germline genome editing in the context of regulation and public opinion
24:08 How newborn genome sequencing could transform early diagnosis and reproductive decision-making
26:13 The origin story for Hertility Health and how it’s transforming women’s access to fertility care
32:14 The strong impact of personalized health recommendations
33:19 Challenges in using genetics to diagnose women’s health conditions and the vision for a longitudinal biobank
35:54 Future directions in Helen’s work on women’s health and genome editing
37:21 Closing remarks
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Hertility Health (https://hertilityhealth.com/)
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
This week on The Genetics Podcast, Patrick is joined by Giles Yeo, geneticist and author of Gene Eating: The Science of Obesity and the Truth About Dieting and Why Calories Don't Count: How We Got the Science of Weight Loss Wrong. Giles and Patrick discuss the genetic, neural, and evolutionary drivers of obesity, the advancements in safe and effective obesity drugs, and the narratives around calorie counting and ultra-processed foods.
Show Notes:
0:00 Intro to The Genetics Podcast
00:59 Welcome to Giles and an overview of recent advances in obesity treatment
04:28 How incretin-based therapies such as GLP-1 receptor agonists have enhanced our understanding of obesity
06:46 Unexpected effects of GLP-1-based therapies on neurodegenerative disease and addiction
09:39 Relative safety and potential side effects of GLP-1-based therapies
11:18 The gap in genetic characterization of individuals with different responses to GLP-1-based treatment
13:10 Competition and demand in the market for obesity drugs
15:46 Targeting comorbidities and genetic and neural components of obesity
19:09 Evolutionary aspects of obesity and how modern world factors can increase risk
24:26 The role of choice in dietary habits
26:29 The spectrum of genetic influences on body weight
29:50 Next frontiers in obesity research and opportunities from genetic advances
32:52 The controversial premise of Giles’ second book on why calorie counting misses the point in improving diet and health
37:43 Giles’ nuanced perspective on ultra-processed foods
44:46 Future avenues for Giles’ research, including mapping genetics and neural circuits underlying obesity
46:05 Giles’ writing process and plans to write a third book
48:55 Closing remarks
