SeminarPast EventGenetics

Autism spectrum disorder: from gene discovery to functional insights

Schedule
Tuesday, June 30, 2020
17:00 UTC
Silvia De Rubeis

Ass. Prof

Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City

Host: NeuroDev Disorders

Event Information

Host

NeuroDev Disorders

Duration

70 minutes

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting up to 1% of the population. Over the past few years, large-scale genomic studies have identified hundreds of genetic loci associated with liability to ASD. It is now time to translate these genetic discoveries into functional studies that can help us understand convergences and divergences across risk genes, and build pre-clinical cell and animal models. In this seminar, I will discuss some of the most recent findings on the genetic risk architecture of ASD. I will then expand on our work on biomarkers discovery and neurodevelopmental analyses in two rare genetic conditions associated with ASD: ADNP and DDX3X syndrome.

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