The Genetics Podcast

Latest Episodes:

EP 171: The past, present, and future of long-read sequencing with Jonathon Hill of Wasatch Biolabs Jan 23, 2025

Show notes

0:00 Intro to The Genetics Podcast
01:00 Welcome to Jonathon and background on the spin-out of Wasatch Biolabs
05:41 Limitations of short-read sequencing and advantages of long-read sequencing
09:16 The cost-benefit analysis of long-read sequencing across applications and objectives
13:03 How Jonathon became interested in nanopore sequencing
15:20 Detecting epigenetic signatures to diagnose, characterize, or predict various diseases
17:40 Proteomics applications, advantages, and disadvantages
20:08 The potential for long-read sequencing to become the diagnostic tool of choice
21:28 The synergy between Jonathon’s academic position at BYU and Wasatch Biolabs, and how the company was created
28:06 Utah as a biotechnology hub
28:55 The story behind the Wasatch Biolabs name
30:03 Jonathon’s excitement about AI and its potential for diagnostics
33:56 Closing remarks and ambitions for future data cohorts
Find out more
Wasatch Biolabs
https://www.wasatchbiolabs.com/
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https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

EP 170: Pan-European collaboration and dementia research with Angela Bradshaw, from Alzheimer Europe Jan 16, 2025

Show notes

0:00 Intro to The Genetics Podcast
01:50 Welcome to Angela and how she joined Alzheimer Europe
05:38 The biggest priorities and areas of focus for dementia and Alzheimer’s Disease (AD) research
09:42 Biomarkers for dementia and how early in disease development they can be utilized
12:12 The heterogeneity of dementia and AD and current understanding of subtypes and treatment journeys
16:07 The challenges of diagnosis, early identifiers, and the integration of genetics
19:15 Angela’s view on the latest breakthrough therapies
23:43 Partnering in and supporting dementia research efforts across 30+ European countries
28:48 Reimbursement frameworks and shared regulations across different countries
33:10 Angela’s thoughts on the near future of gene therapies for AD and dementia
37:35 Why Angela spent 50 hours traveling the length of Australia by bus
41:10 Closing remarks
Find out more

Alzheimer Europe

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EP 169: Common variants in rare neurological diseases with Hilary Martin of the Wellcome Sanger Institute Jan 09, 2025

Show notes

0:00 Intro to The Genetics Podcast
01:42 Welcome to Hilary and her background at the Wellcome Sanger Institute
03:04 Key areas of focus for Hilary’s research group: neurodevelopmental disorders and consanguinity
04:29 Exploring the role of common variants in rare neurodevelopmental disorders
08:18 Liability threshold model and its application to neurodevelopmental disorders
13:11 Direct versus indirect genetic effects and their implications
23:56 Parental assortment, common variants, and rare variant correlations
25:48 Lay summaries and FAQs: making complex genetic research accessible to families
28:17 The future of clinical testing: polygenic and monogenic contributions
30:32 How Hilary became interested in consanguinity and its genetic impact
33:19 Hilary’s team’s future focus and extending work on common variants in neurodevelopmental conditions
34:28 Insights from the latest preprint on birth cohorts and cognitive performance
39:32 Hilary’s family background in genetics and her career journey
42:33 Closing remarks, collaboration opportunities, and ambitions for future research.
Find out more

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EP 168: A world-first in RNA medicines with Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences Jan 02, 2025

Show notes

0:00 Intro to The Genetics Podcast
01:00 Welcome to Erik
02:05 Key differences between DNA and RNA editing
05:25 Wave’s recent world-first finding in Alpha-1 Antitrypsin Deficiency
08:17 Dosage regularity and delivery process for edited RNA therapies
14:08 Next steps for Wave’s new discovery, including potential applications in other conditions
17:41 Using genetic targets to inform areas of focus and RNA treatment development
24:04 The GLP1 mechanism in human genetics and its role in obesity
25:43 Erik’s transition from big pharma to biotech and the resulting changes in his approach to treatment development
31:02 What has driven Erik to explore and experience a wide range of roles throughout his career
34:29 The importance of balancing fatherhood with a thriving career, and how Erik works to do so successfully
38:35 Closing remarks
Find out morewavelifesciences.com Erik Ingelsson
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EP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers Dec 26, 2024

Show notes

00:00 Intro to The Genetics Podcast
01:00 Welcome back to Veera and topics to be covered
03:50 Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants, including:

Focusing on recent findings related to Huntington’s HTT repeat expansion in striatal neurons
Leveraging newly-sequenced GWAS data from the UK Biobank and All of Us cohorts to study short tandem repeats (STRs), particularly the CAG triplet repeat
Identifying multiple participants with expanded repeats exceeding 45 base pairs, revealing that three genetic sites account for over 97% of these expansions
Exploring factors that may prevent or impact the phenotypic manifestation of repeat expansions
Read the paper

30:51 The impact of lipids in protecting against pathogenic APOE and Alzheimer’s disease (AD)

Investigating how different haplotypes interact with low-density lipoprotein receptors in neuronal tissues, influencing cholesterol lipid transport and AD risk
Examining lipid profiles in APOE carriers, including elevated low-density lipoprotein cholesterol levels in APOE4 carriers and decreased levels in APOE2 carriers, and their effects on cholesterol and nutrient supply to neurons
Exploring gene therapy approaches for delivering APOE2 into the brain
Read the paper

44:20 How low frequency genetic variants can impact the age of menopause onset

Exploring the relationship between age of menopause and ovarian function
Addressing the challenges in studying recessive genetic associations
Examining how homozygosity of a variant in the CCDC201 gene influences primary ovarian insufficiency and strongly associates with early menopause
Read the paper

57:58 GUARDIAN: Expanding screening for newborns to include targeted genome sequencing

Examining the 72% participation rate among invited families and the 90% consent rate for expanded panel screening
Exploring opportunities for early treatment and preventive interventions
Ensuring databases are representative across diverse populations
Tune into Episode 117 to hear from the leader of the GUARDIAN program, Wendy Chung

01:11:54 Predictions for 2025 and closing remarks!

EP 166: Developing targeted therapies for ALS with Eric Green from Trace Neuroscience, Maze Therapeutics, and Stanford University Dec 19, 2024

Show notes

0:00 Intro to The Genetics Podcast
01:00 Welcome to Eric, his background in cardiology, and how he got into biotech
05:20 Eric’s experience incubating and spinning out early-stage companies with Third Rock Ventures and developing Maze Therapeutics
08:10 Eric’s decision to transition from academia to the world of biotech
10:21 Building Maze Therapeutics and Eric’s focus on and genetic modifiers to discover new drugs
14:06 The growth of therapeutic modalities in the context of genetics and gene therapies
15:45 What led Eric to launch Trace Neuroscience and focus on ALS and other neurological disorders
22:10 Eric’s work on the UNC13A gene and bringing new hope to the development of ALS therapies
27:32 The process of getting Trace’s ALS therapies into the clinic
31:19 The identification of therapeutic value in low odds ratio genes
34:55 Eric’s view on the APOA1 gene target and its major effect size in kidney disease
39:00 How best to integrate genetics and genetic discovery into small and medium biotechs
40:47 Closing remarks
Find out moretraceneuro.com

EP 165: Harnessing CRISPR and RNA editing to transform healthcare with Dr. Ness Bermingham Dec 12, 2024

Show notes

0:00 Introduction
1:29 Ness’ journey to becoming an entrepreneur and first-time founder.

5:37 Discussing CRISPR Therapeutics and its application in treating sickle cell disease.

7:43 Exploring the potential of RNA therapies and Ness’ work at Korro Bio.

11:29 Balancing scientific discovery with commercial viability in alpha-1 antitrypsin therapies for lung and liver diseases.

14:55 Creating a vision, setting realistic goals, and managing capital in early-stage biotech companies.

19:42 Differentiating biotech companies that use the same platform technologies, such as RNA editing.

24:19 Addressing regulatory barriers in drug development and exploring phenotypic manifestations of diseases.

28:53 Discussing bottlenecks in biotechnology, including drug delivery, regulation, patient segregation, and reimbursement.

33:02 Exploring how to price cures based on the financial burden saved by the healthcare system.

35:31 Sharing insights on Khosla Ventures’ investment in OpenAI and the impact of AI in biotech.

41:28 Discussing the role of AI in identifying drug targets, increasing impact rates, and enhancing patient safety.

43:32 Introducing Ness’ podcast, Between the BioTech Waves.

46:23 Discovering what advancements in biotechnology Ness is most excited about.

51:40 Closing remarks.
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EP 164: Groundbreaking advances in MMR-deficient rectal cancer, liquid biopsies, and precision oncology with Dr. Luis Diaz Dec 05, 2024

Show notes

0:00 Introduction

1:48 Welcome to Dr. Diaz

2:19 Insights from Dr. Diaz’s groundbreaking clinical trial on treating MMR-deficient rectal cancer patients with dostarlimab, which achieved an astonishing 100% complete tumor regression without chemotherapy, radiation, or surgery.

2:45 The origins of this breakthrough study, spanning decades of work in rectal cancer

3:45 How cancer genomics and immunotherapy link, or as Dr. Diaz puts it, “the marriage between cancer genomics and immunotherapy”

7:37 Recurring themes of DNA mismatch repair and microsatellite tumors in early tumorigenesis

10:01 The hypothesis that high mutational burden with immune checkpoint inhibition would lead to therapeutic responses for cancer

15:28 FDA approval for checkpoint inhibitors to treat tumors at any site exhibiting mismatch repair deficiency, which opened the floodgates for tumor agnostic indicators moving forward

18:31 Preventing polyp formation in colon cancer in order to delay cancer progression

23:04 The game-changing use of liquid biopsy for non-invasive cancer detection: how it works and its potential to become a routine tool in the clinic

30:28 Using machine learning and other technological advancements to address biological limitations to early cancer detection

34:21 Improving the signal-to-noise ratio to enhance resolution and detect tumorigenic mutations through stable and specific biological markers

40:04 The potential for those in other fields, such as lung and brain diseases, to learn from Dr. Diaz’s work in cancer therapeutics and early detection

45:47 Closing remarks
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EP 163: The intersection of loss and genetic insight with Susan Liebman of University of Nevada Nov 27, 2024

Show notes

0:00 Intro to The Genetics Podcast
01:00 Welcome to Susan, and an introduction to The Dressmaker's Mirror and the personal experience that inspired her to write it
03:17 How a question she asked her book club sparked the idea for a family memoir, intertwining personal stories and the impact of genetics.
04:28 The heartbreaking story of Susan’s niece, whose sudden tragic death was a result of an undiagnosed genetic condition
08:11 How Susan pieced together the clues pointing to genetic heritability, uncovering the cause of her niece's death and shedding light on the implications for her family
11:38 Susan’s personal experience of whole genome sequencing within her own family
15:04 The role of Susan’s Ashkenazi Jewish heritage in her family’s diagnostic journey to dilated cardiomyopathy
16:20 The importance of genetic screening, managing potential health outcomes, and the ethics of sharing results
19:32 Understanding the potential for mutations to have different impacts within different ethnic groups
21:00 The challenges of managing edge cases, understanding penetrance, and the need for dynamic knowledge transfer as the volume of available genetic data rapidly expands
23:44 Defining “actionability” in the context of genetic results and what it could mean for the next generation
25:53 Susan’s career and work in yeast genetics and its translation to human disease
30:35 Her experience being part of the first ever cohort of women to live on campus at MIT
34:20 The Westinghouse Science Fair project that won her a place at MIT
36:25 How Susan went from aspiring to be a grade school teacher to becoming a research scientist and professor
37:31 Advice to early career scientists on grant applications and beyond
39:49 Closing remarks
Find out moreThe Dressmaker’s Mirror

EP 162: The genetics of isolated communities with Professor Jim Wilson of the University of Edinburgh Nov 21, 2024

Show notes

Show Notes:
0:00 Intro to The Genetics Podcast
01:00 Welcome to Jim
01:40 The most impactful discoveries of Jim’s work across more than 25 Scottish islands as part of the Viking Genes project
05:00 The increased prevalence of BRCA mutations and founder effects in specific island populations
07:45 Population sizes on the islands Jim studies
09:01 Islander screening today, how Jim and his team are taking genetic screening programs forward, and the impact of founder effects on population health
13:00 Raising awareness of the importance of genetic screening within isolated populations
14:50 How the Jewish community is at the forefront of screening for populations at increased risk of specific genetic conditions
17:19 Factors that cause delays in implementation of screening for at-risk populations
20:29 Mapping Prince William’s mitochondrial DNA and working with Westminster to raise awareness of genetic screening
23:07 Shared ancestries and the deep interconnections within our DNA, revealing how populations are far more intertwined than we often realize.
25:43 Key actionable findings from Jim’s work with isolated Scottish communities (Find the link to the paper below)
29:10 Current knowledge and understanding of global isolated communities
31:27 How the majority of people want to receive genetic results and have knowledge of potential health impacts and actionable findings
33:03 Jim’s IFTA winning work with the Irish Traveller community
35:05 The power of genetics and screening to deliver preventative medicine and improved health outcomes for isolated communities.
39:18 Closing remarks
Find out more:
Viking Genes Project - http://viking.ed.ac.uk
Jim’s latest research papers - https://www.research.ed.ac.uk/en/persons/jim-wilson/publications/
Preprint: Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results - https://www.medrxiv.org/content/10.1101/2024.11.01.24316571v1

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