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) 

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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 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)

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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 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)

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 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/)

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 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/)

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 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