Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Genomic profiling and functional mutation analysis in autism spectrum disorders  

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. Project Status
ONGOING

2010

Funder National Institutes of Health
Fiscal Year Funding $1,061,929.00
Current Award Period 2009-2011
Project Number 5RC2MH089956-02
Principal Investigator State, Matthew; Giraldez, Antonio
Received ARRA Funding? Yes
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
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.
Federal or Private? Federal
Institution Yale University
State/Country Connecticut
Web Link 1 Genomic profiling and functional mutation analysis in autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Genomic profiling and functional mutation analysis in autism spectrum disorders | $1,183,908.00 | 2009 | 1RC2MH089956-01