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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

3/5-Elucidating the genetic architecture of autism by deep genomic sequencing

Principal Investigator

Principal Investigator

Buxbaum, Joseph

Description

Description

This research will be conducted through a partnership between expert large-scale sequencing centers and a collaborative network of research labs focused on the genetics of autism to utilize novel high-throughput genome sequencing to discover specific genes underlying the significant heritability of autism. Without knowledge of the specific genes and DNA variants that predispose to disease, the basic starting point with which the biological processes of disease might be understood is missing. The project will first support a detailed examination of 1000 genes implicated by previous genetic studies or postulated to be functionally relevant, and later, as the technology continues to advance, through unbiased whole-genome sequencing. By combining large, well-characterized patient samples, experienced DNA sequencing teams and a collaborative, expert analysis and follow-up network, this study will provide novel insight into autism biology and will expose genes and pathways that constitute high priority targets for therapeutic development.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

571568

Current Award Period

Current Award Period

na

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

3/5-Elucidating the genetic architecture of autism by deep genomic sequencing (External web link)

Institution

Institution

Mount Sinai School of Medicine

State/Country

State/Country

New York

Project Number

Project Number

1R01MH089025-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

3/5-Elucidating the genetic architecture of autism by deep genomic sequencing | 840464 | 2010 | 5R01MH089025-02

 
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