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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

Rapid phenotyping for rare variant discovery in autism

Principal Investigator

Principal Investigator

Nelson, Stanley

Description

Description

While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. The key limitation currently is the relative lack of families available for genetic analysis. In order to comprehensively delineate the heterogeneous genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This project is intended to use web-based recruiting to greatly expand DNA samples available for genetic analysis to determine the heterogeneous genetic causes of autism. A sample set of 1200 simplex tetrad families consisting of both parents, one affected child and the unaffected sibling will be collected, stored, and made available to researchers. Further, candidate gene re-sequencing will permit higher sensitivity detection of rare risk alleles for autism, identify potential new mutations that lead to autism and expand understanding of autism.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

700956

Current Award Period

Current Award Period

2011-2016

Strategic Plan Question

Strategic Plan Question

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

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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

Rapid phenotyping for rare variant discovery in autism (External web link)

Institution

Institution

University of California, Los Angeles

State/Country

State/Country

California

Project Number

Project Number

5R01NS073871-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Rapid phenotyping for rare variant discovery in autism | 645169 | 2011 | 1R01NS073871-01A1

 
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