The Genetics Podcast

This week on The Genetics Podcast, Patrick is joined by Leeland Ekstrom, CEO and co-founder of Nashville Bio. They discuss how Leeland went from being a consultant on a project for Vanderbilt University to a co-founder of a start-up and the unique aspects of NashBio’s clinical and genetic database.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to Leeland and the origin story of Nashville Bio

05:13 Process of setting up NashBio’s genome resource with 250K individuals

11:52 How different pharmaceutical companies responded to NashBio’s database and its unique advantages compared to others

17:50 Key priorities for applications of the resource beyond target discovery

20:19 The process of selecting additional gaps that NashBio’s services can fill versus letting others fill them

25:02 Advantages at Vanderbilt Medical Center that facilitated the project and how it can be replicated at other centers

30:32 Immediate and long-term impacts of current NIH funding cuts on biotech and academia

36:43 NashBio’s current major focuses and future goals

39:20 Closing remarks

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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.

Show Notes: 

0:00 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 why 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 current 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

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This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx’s mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John’s diverse experiences inform his approach as a leader.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to John

02:01 John’s background at GSK and his transition to drug discovery

05:45 Establishing ProFound Therapeutics to expand the proteome and identify novel drug targets 

08:27 Genomic origins of newly-identified proteins and the process of finding them

09:49 Developing the ProFoundry atlas and integrating data across assays 

15:27 Different approaches to inferring protein links and association to disease

17:13 Collaboration with Pfizer to find regulators in the context of obesity

18:04 Developing novel antibody-drug conjugates for cancer treatment

20:27 Clarifying causality in proteomic data

21:59 Approaching novel targets while considering industrial and business factors

25:19 John’s background as a cardiologist and how that impacts his current work

27:26 Tips for biotech companies looking to be noticed by pharma for collaborations

30:30 Considerations for investigating new and different therapeutic modalities and techniques

33:39 How John consistently reinforces the translational angle as a business leader

36:24 Closing remarks and future direction for ProFound Therapeutics

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This week on The Genetics Podcast, Patrick is joined by Raghib Ali, CEO, CMO, and Principal Investigator of Our Future Health UK. As a clinical epidemiologist with a passion for reducing health inequalities, Raghib offers fresh insights into the priorities, challenges, and transformative impact of the groundbreaking genomics initiative, Our Future Health. 

Show Notes: 

0:00 Intro to The Genetics Podcast

01:00 Welcome to Raghib and background on Our Future Health (OFH)

03:57 Diseases that are a priority for OFH or are likely to benefit from its impact

06:07 Challenges and opportunities for implementing change in the National Health Service (NHS), a partner of OFH, based on study findings

09:20 Factors that contributed to the rapid recruitment of participants to OFH

14:12 Efforts to ensure diversity of OFH participants and facilitate accessibility for all

16:35 Why OFH chose to use arrays for genomic profiling

18:57 Navigating the obstacles and opportunities in public and private partners

22:28 Strengths and weaknesses of the medical record system in the UK

25:54 Efforts to rapidly provide results from OFH and integrating other datasets and techniques in the future

28:43 Raghib’s unique educational and training journey 

31:49 The importance of evaluating components beyond genetics for a full picture of health

33:28 Aims and findings of the first prospective cohort study in the UAE

35:26 The potential contribution of epigenetic inheritance to disease risk 

37:43 How Raghib overcame adversity early in life

40:56 Closing remarks 

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This week on The Genetics Podcast, we’re celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick’s.

Show Notes: 

0:00 Intro to The Genetics Podcast

00:59 Welcome to Anthony and Stan

02:05 The origin story for Anthony and Stan’s long-distance collaboration

06:55 Stan’s background in metabolic disorders and sequencing techniques

11:09 Common genetic culprits and barriers to identifying mutations that cause kidney disease

14:01 Background and findings from Anthony and Stan’s ApoA4 study

23:54 Potential therapeutic avenues based on the ApoA4 study

26:49 Current and future focuses for characterizing diseases in families

30:42 Working with collaborators internationally to access large databases and registries

33:05 Innovative transplant methods, including genetically-modified pig kidneys

36:36 Closing remarks and a heartfelt thank you to researchers and families driving rare disease research

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