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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection

Principal Investigator

Principal Investigator

Wigler, Michael; McCombie, William

Description

Description

Autism spectrum disorders (ASD) are largely genetic in origin and occur either sporadically (simplex) or in a familial (multiplex) pattern. This project is intended to address the genetic basis of ASD through a high-throughput, candidate-gene sequencing approach. For these experiments, the Simons Simplex Collection (SSC) will be utilized as the sample population. The SSC is the largest high-quality set of ASD families assembled so far, and it is specifically designed to compensate for the shortcomings of existing ASD family populations by ensuring comprehensive and consistent clinical analyses. More importantly, it is a collection of simplex families, and as a result the proportion of cases of autism due to spontaneous mutation-as opposed to inheritance-is maximized. This study will yield significant insight into the molecular basis of autistic spectrum disorders, which are largely genetic in origin, highly prevalent among all populations, and difficult to diagnose and classify. This work will lead to advances in molecular screening of ASD among young children, which will in turn result in improved diagnoses and more precisely targeted treatment regimes.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

1395339

Current Award Period

Current Award Period

2009-2011

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3SA. Coordinate and implement the inclusion of approximately 20,000 subjects for genome-wide association studies, as well as a sample of 1,200 for sequencing studies to examine more than 50 candidate genes by 2011. Studies should investigate factors contributing to phenotypic variation across individuals that share an identified genetic variant and stratify subjects according to behavioral, cognitive, and clinical features. IACC Recommended Budget: $43,700,000 over 4 years.

Project Link

Project Link

Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection (External web link)

Institution

Institution

Cold Spring Harbor Laboratory

State/Country

State/Country

New York

Project Number

Project Number

5RC2MH090028-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection | 1384503 | 2009 | 1RC2MH090028-01

 
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