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Topic: DDX3X syndrome

Seminar
1 seminar

In Biology and Developmental Neuroscience

Seminar · Genetics

Autism spectrum disorder: from gene discovery to functional insights

Silvia De Rubeis · Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York City

Tue, Jun 30, 2020 · 17:00 UTC

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 neur