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

This week on The Genetics Podcast, we’re joined by Hilary Martin, Group Leader in Human Genetics at the world-renowned Wellcome Sanger Institute. Hilary and Patrick discuss her group’s work on neurodevelopmental conditions, the role of common genetic variants in rare disease, and how to untangle the impact of direct and indirect genetic influences on various traits. Find out more Nature paper: Examining the role of common variants in rare neurodevelopmental conditions https://www.nature.com/articles/s41586-024-08217-y Genes and Health Project https://www.genesandhealth.org

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.

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