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SUMMARY:Insights into the Genetic Architecture of Neurodevelopmental Condi
 tions and Traits from Large Cohorts - Dr. Hilary Martin\, Wellcome Sanger 
 Institute\, Cambridge. UK
DTSTART:20250228T120000Z
DTEND:20250228T133000Z
UID:TALK224344@talks.cam.ac.uk
CONTACT:Sara Seddon
DESCRIPTION:Abstract: Over the last fifteen years\, high-throughput DNA se
 quencing of large patient cohorts has revolutionised the diagnosis and und
 erstanding of rare diseases\, particularly rare neurodevelopmental conditi
 ons involving intellectual disability. Recent work in population-based coh
 orts such as UK Biobank has shown us that\, contrary to earlier assumption
 s\, the genetics of rare neurodevelopmental conditions overlaps with the g
 enetics of cognitive ability\, psychiatric disease and related traits in t
 he 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 t
 hen present recent work on the common and rare genetic contributions to co
 gnitive development from longitudinally-phenotyped birth cohorts and expla
 in how this helps us make sense of observations from clinical studies.
LOCATION:Ground Floor Lecture Theatre\, Department of  Psychology
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