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The Lady Davis Institute and the ³ÉÈËVRÊÓƵ-Génome Québec Innovation Centre

present

A ³ÉÈËVRÊÓƵ Distinguished Lecture in Human Genetics

Autism & Development Delay: New Mutations, Genes and Pathways

Speaker: Evan Eichler PhD

Professor of Genome Sciences
University of Washington

I will summarize our recent findings regarding the discovery of genetic mutations and their contribution to autism spectrum disorder (ASD) and intellectual disability (ID). Our analysis of 30,000 children with ASD/ID suggests that between 8%–14% of disease is caused by inherited or de novo deletions and duplications of large segments of the genome involving multiple genes. I will present evidence from exome and molecular inversion probe 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 perturbations within specific pathways can lead to disease with varying severity and predict clinical subtypes of autism.

Info: rsvp.med [at] mcgill.ca.