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

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

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. Project Status
ONGOING

2010

Funder National Institutes of Health
Fiscal Year Funding $1,395,339.00
Current Award Period 2009-2011
Project Number 5RC2MH090028-02
Principal Investigator Wigler, Michael; McCombie, William
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 Cold Spring Harbor Laboratory
State/Country New York
Web Link 1 Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Deep sequencing of autism candidate genes in 2000 families from the Simons Simplex Collection | $1,384,503.00 | 2009 | 1RC2MH090028-01