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UID:20251106T103627EST-67686w3MWK@132.216.98.100
DTSTAMP:20251106T153627Z
DESCRIPTION:The Lady Davis Institute and the ɬÀï·¬-Génome Québe
 c Innovation Centre\npresent\n A ɬÀï·¬ Distinguished Lecture in Human Gen
 etics\n Autism & Development Delay: New Mutations\, Genes and Pathways\nSp
 eaker: Evan Eichler PhD\nProfessor of Genome Sciences University of Washin
 gton\nI will summarize our recent findings regarding the discovery of gene
 tic mutations and their contribution to autism spectrum disorder (ASD) and
  intellectual disability (ID). Our analysis of 30\,000 children with ASD/I
 D suggests that between 8%–14% of disease is caused by inherited or de nov
 o deletions and duplications of large segments of the genome involving mul
 tiple genes. I will present evidence from exome and molecular inversion pr
 obe sequencing of more than 2000 parent– child trios with sporadic autism 
 and show how these data may be used to pinpoint specific genes. We propose
  that the early development of the brain is particularly sensitive to the 
 timing and expression of many different genes\; multiple genetic perturbat
 ions within specific pathways can lead to disease with varying severity an
 d predict clinical subtypes of autism. \nInfo: rsvp.med [at] mcgill.ca.\n
 \n\n
DTSTART:20131209T203000Z
DTEND:20131209T220000Z
LOCATION:Moot Court\, Chancellor Day Hall\, CA\, QC\, Montreal\, H3A 1W9\, 
 3644 rue Peel
SUMMARY:A ɬÀï·¬ Distinguished Lecture in Human Genetics
URL:/medhealthsci/channels/event/mcgill-distinguished-
 lecture-human-genetics-231920
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