NIH VideoCast - Autism: New Mutations, Genes, and Pathways

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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: 459 (193 Live, 266 On-demand)
Category:	WALS - Wednesday Afternoon Lectures
Runtime:	01:06:20
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
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

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

NLM Classification:	WS 350.8.P4
NLM ID:	101654008
CIT Live ID:	15720
Permanent link:	https://videocast.nih.gov/watch=15720

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