Autism: New Mutations, Genes, and Pathways

Autism: New Mutations, Genes, and Pathways Air date: Wednesday, February 18, 2015, 3:00:00 PM Category: WALS - Wednesday Afternoon Lectures Runtime: 01:06:20 Description: NIH Wednesday Afternoon Lecture Series Dr. Eichler will summarize his recent findings regarding the discovery of new genes and genetic mutations that contribute to autism spectrum disorder (ASD) and developmental delays. The lecture will highlight the identification of rare disruptive mutations using copy-number variation from exome- and genome-sequencing approaches on thousands of individuals. He proposes that the early development of the brain is particularly sensitive to the timing and expression of many different genes; multiple genetic perturbations within specific neurodevelopmental pathways can lead to disease with varying severity and predict clinical subtypes of autism. Dr. Eichler will present data on how grouping patients based on a specific gene can be used to predict clinical subtypes of auti