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Autism: New Mutations, Genes, and Pathways

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Air date: Wednesday, February 18, 2015, 3:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 454, (193 Live, 261 On-demand)
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 autism. The flood of recent data and candidates provides a powerful path forward for understanding the genetic basis of autism.

For more information go to http://wals.od.nih.gov
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NLM Title: Autism : new mutations, genes, and pathways / Evan Eichler.
Author: Eichler, Evan.
National Institutes of Health (U.S.),
Publisher:
Abstract: (CIT): 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 autism. The flood of recent data and candidates provides a powerful path forward for understanding the genetic basis of autism.
Subjects: Autistic Disorder--genetics
DNA Copy Number Variations
Developmental Disabilities--genetics
Mutation
Publication Types: Lecture
Webcast
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Caption Text: Download Caption File
NLM Classification: WS 350.8.P4
NLM ID: 101654008
CIT Live ID: 15720
Permanent link: https://videocast.nih.gov/watch=15720