The Genetics Podcast

Sano Genetics
The Genetics 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

  1. 4D AGO

    EP 179: Redefining rare disease realities with Sharon Terry of the Genetic Alliance

    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 Find out more Genetic Alliance (https://geneticalliance.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

    42 min
  2. MAR 13

    EP 178: Expanding the human proteome to facilitate drug discovery with John Lepore of ProFound Therapeutics

    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 Find out more ProFound Therapeutics (https://www.profoundtx.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

    40 min
  3. MAR 6

    EP 177: The vision of Our Future Health with Raghib Ali

    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  Find out more Our Future Health (https://ourfuturehealth.org.uk/) 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

    43 min
  4. FEB 27

    EP 176: Hunting rare kidney disease mutations with Anthony Bleyer of Wake Forest and Stan Kmoch of Charles University

    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 Find out more Latest study: https://doi.org/10.1016/j.kint.2023.11.021 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

    38 min
  5. FEB 20

    EP 175: Pioneering treatment for stop codon disease using tRNA with Michelle Werner of Alltrna

    This week on The Genetics Podcast, Patrick is joined by Michelle Werner, CEO at Alltrna and CEO/Partner at Flagship Pioneering. They discuss Alltrna’s promising findings from its first preclinical study on using tRNA to rescue stop codon disease, the strategic use of basket trials, and more! Show Notes:  0:00 Intro to The Genetics Podcast 01:00 Welcome to Michelle 02:13 Overview of Alltrna’s aims and the advantages of using tRNA to tackle stop codon disease 5:27 Using basket trials for genetic diseases 08:03 Highlights from Alltrna’s first preclinical study using tRNA to restore protein production to clinically meaningful levels in methylmalonic acidemia (MMA) and phenylketonuria (PKU) 14:02 Considerations in delivery techniques and Alltrna’s use of nanoparticles 19:22 Stability of tRNA and how engineered tRNAs are recognized in vivo  23:12 Strategic design of basket trials and diseases that are covered 26:16 Adaptive trial design in the rare genetic disease setting 28:15 Michelle’s experience with regulatory organizations on new approaches to trial design 32:14 Insights from spearheading Alltrna and Flagship Pioneering’s innovative approaches  37:26 Michelle’s lessons from working in big pharma versus a small biotech start-up 40:50 Closing remarks and a call for collaborators Find out more Alltrna (https://www.alltrna.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

    45 min
  6. FEB 13

    EP 174: Decentralized science and reducing the cost of gene therapies with Jocelynn Pearl of the TAM Center

    On this week’s episode of The Genetics Podcast, we’re joined by Jocelynn Pearl, Director of Cancer Cell Therapy at the TAM Center, host of the Lady Scientist Podcast and Co-Founder of LabDAO. Patrick and Jocelynn discuss her move to Mexico to help accelerate the development of new cancer therapies, harnessing the power and potential of decentralized science, and overcoming sky-high gene therapy costs to increase accessibility for patients. Show Notes:  0:00Intro to The Genetics Podcast 01:00Welcome to Jocelynn 02:03 Jocelynn’s past work at The Institute for Systems Biology  04:55 How Jocelynn approached her transition to biotech from the world of academia 10:14 Exploring decentralized science, including how it works and Jocelynn’s involvement to date 15:54 What a Decentralized Autonomous Organisation (DAO) is and how this type of organizational structure supports scientific development 22:45 The “fast grant” surge and other non-traditional funding methods 28:00 Hosting the Lady Scientist Podcast and some of Jocelynn’s favorite moments 32:43 Jocelynn’s move to Mexico to serve as Director of Cancer Cell Therapy at the TAM Center 36:12 The biggest differences between building out drug development programs in Mexico and the US 38:31 Regulatory differences between countries in the context of stem cell therapies 42:48 The advantages for cancer therapeutic development in Jocelynn’s current environment 46:20Driving down the costs of gene therapies and the impact on accessibility   48:09 Closing remarks Find out more LabDAO:https://www.lab.bio/  Please considerrating and reviewing us on your chosen podcast listening platform!https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj

    46 min
  7. FEB 6

    EP 173: Tackling genetic cardiomyopathy from the bed to the bench with Eric Adler of Lexeo Therapeutics and UCSD

    Summary:  This week on The Genetics Podcast, Patrick is joined by Eric Adler, Chief Medical Officer and Head of Research at Lexeo Therapeutics and Professor of Medicine at University of California San Diego. Eric shares his experience with genetic cardiomyopathy and his work on gene therapy for Danon disease, drawing from both clinical and research perspectives. Additionally, he explores the evolution of the field and the broader challenges faced by cardiovascular patients. Show Notes:  0:00 Intro to The Genetics Podcast 01:00 Welcome to Eric and his efforts in cardiomyopathy at the bench and bedside 03:32 How modeling genetic diseases using pluripotent stem cells lead Eric to studying Danon disease  04:50 Pivoting from basic to translational research using adeno-associated viruses (AAV)-based gene therapy 07:58 Uncovering genetic cardiomyopathies that were misdiagnosed as idiopathic cardiomyopathy 09:55 Treatment, screening, and penetrance of Danon disease 12:30 Recent successes and remaining challenges in cardiovascular disease 19:47 Battling distrust in the medical profession 21:55 Preventative therapy using APOE2 for patients at risk of early Alzheimer’s   25:15 Motivations behind and advantages of Eric’s patient-centered approach to therapeutics 27:24 Balancing regulatory requirements for protocols versus patient needs 29:49 The importance of committed clinical partners for successful trial execution 36:08 Eric’s passion for cooking and how he won a cooking competition 39:02 Closing remarks and Lexeo Therapeutics’ aims for 2025 Find out more Lexeo Therapeutics (https://www.lexeotx.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

    41 min
  8. JAN 30

    EP 172: Racial health disparities in genetic testing and breast cancer treatment with Dr. Versha Pleasant of University of Michigan

    This week on The Genetics Podcast, Patrick is joined by Versha Pleasant, Clinical Assistant Professor in the Department of Obstetrics and Gynecology, University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at Von Voigtlander Women’s Hospital. They discuss ongoing disparities in healthcare, in particular why black women in the US have a 40% higher chance of dying from breast cancer than white women, the impact of the US Educate Act on equality, diversity and inclusion education, and much more. 00:00:00 – Intro to The Genetics Podcast 00:01:52 – Welcome to Versha 00:03:22 – How black women have a 40% higher chance of mortality from breast cancer than white women, and the biggest drivers of this disparity 00:07:09 – Multifaceted approaches to addressing disparities 00:09:10 – Racial health duplicity and increasing access to genetic testing and mammography for black women 00:13:51 – The challenges of using precision medicine to stratify risk in black communities and historical harms in US medical research 00:14:29 – How to design for inclusive studies that effectively represent communities of colour 00:16:13 – Considering universal genetic testing and counseling for black women 00:21:24 – The logistics of making universal testing a reality, and the importance of community education and trust building 00:27:18 – What Versha is focused on next and the big topics she wants to tackle 00:33:24 – The role of community education and diversifying modes of communication for knowledge sharing 00:34:36 – Versha’s perspectives on the US Educate Act and the impact it could have on what doctors of the future are taught 00:40:52 – Versha’s advice to people who would like to pursue a similar career in medicine 00:43:28 – Where Patrick sees genetics evolving in the next ten years and his vision for the future of The Genetics Podcast 00:47:39 – Closing remarks Find out more Universal Genetic Counseling and Testing for Black Women: A Risk-Stratified Approach to Addressing Breast Cancer Disparities: https://www.clinical-breast-cancer.com/article/S1526-8209(24)00338-0/fulltext  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

    49 min
4.8
out of 5
43 Ratings

About

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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