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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

Genomic profiling and functional mutation analysis in autism spectrum disorders

Principal Investigator

Principal Investigator

State, Matthew

Description

Description

Rare genetic variation is likely to play a significant role in the etiology of autism spectrum disorders (ASD), and methods of detecting rare and very rare variation in large numbers of patients and controls are now economically and technically feasible. This study seeks to identify the role of 2 specific genes in ASD, Contactin Associated Protein 2 (CNTNAP2) and Picollo (PCLO). The research plan utilizes high throughput sequencing technologies combined with molecular and biological studies in an effort to clarify the precise contribution of these two brain expressed molecules to ASD.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

1183908

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

Genomic profiling and functional mutation analysis in autism spectrum disorders (External web link)

Institution

Institution

Yale University

State/Country

State/Country

Connecticut

Project Number

Project Number

1RC2MH089956-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

Genomic profiling and functional mutation analysis in autism spectrum disorders | 1061929 | 2010 | 5RC2MH089956-02

 
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