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DTSTART:19700329T010000
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CATEGORIES:Zangwill Club
SUMMARY:Insights into the Genetic Architecture of Neurodev
 elopmental Conditions and Traits from Large Cohort
 s - Dr. Hilary Martin\, Wellcome Sanger Institute\
 , Cambridge. UK
DTSTART;TZID=Europe/London:20250228T120000
DTEND;TZID=Europe/London:20250228T133000
UID:TALK224344AThttp://talks.cam.ac.uk
URL:http://talks.cam.ac.uk/talk/index/224344
DESCRIPTION:Abstract: Over the last fifteen years\, high-throu
 ghput DNA sequencing of large patient cohorts has 
 revolutionised the diagnosis and understanding of 
 rare diseases\, particularly rare neurodevelopment
 al conditions involving intellectual disability. R
 ecent work in population-based cohorts such as UK 
 Biobank has shown us that\, contrary to earlier as
 sumptions\, the genetics of rare neurodevelopmenta
 l conditions overlaps with the genetics of cogniti
 ve ability\, psychiatric disease and related trait
 s in the general population. I will first discuss 
 what we have learnt about the genetic architecture
  of neurodevelopmental conditions from the Deciphe
 ring Developmental Disorders study comprising over
  13\,000 patients.  I will then present recent wor
 k on the common and rare genetic contributions to 
 cognitive development from longitudinally-phenotyp
 ed birth cohorts and explain how this helps us mak
 e sense of observations from clinical studies.
LOCATION:Ground Floor Lecture Theatre\, Department of  Psyc
 hology
CONTACT:Sara Seddon
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