Insights into the Genetic Architecture of Neurodevelopmental Conditions and Traits from Large Cohorts

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• Dr. Hilary Martin, Wellcome Sanger Institute, Cambridge. UK
• Friday 28 February 2025, 12:00-13:30
• Ground Floor Lecture Theatre, Department of Psychology.

If you have a question about this talk, please contact Sara Seddon.

The host for this talk is Varun Warrier

Abstract: Over the last fifteen years, high-throughput DNA sequencing of large patient cohorts has revolutionised the diagnosis and understanding of rare diseases, particularly rare neurodevelopmental conditions involving intellectual disability. Recent work in population-based cohorts such as UK Biobank has shown us that, contrary to earlier assumptions, the genetics of rare neurodevelopmental conditions overlaps with the genetics of cognitive ability, psychiatric disease and related traits in the general population. I will first discuss what we have learnt about the genetic architecture of neurodevelopmental conditions from the Deciphering Developmental Disorders study comprising over 13,000 patients. I will then present recent work on the common and rare genetic contributions to cognitive development from longitudinally-phenotyped birth cohorts and explain how this helps us make sense of observations from clinical studies.

This talk is part of the Zangwill Club series.

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