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

2/5-Elucidating the genetic architecture of autism by deep genomic sequencing  

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. Project Status


Funder National Institutes of Health
Fiscal Year Funding $2,442,659.00
Project Number 1R01MH089208-01
Principal Investigator Daly, Mark
Received ARRA Funding? Yes
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (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 Broad Institue, Inc.
State/Country Massachusetts
Web Link 1 2/5-Elucidating the genetic architecture of autism by deep genomic sequencing (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects 2/5-Elucidating the genetic architecture of autism by deep genomic sequencing | $1,723,105.00 | 2010 | 5R01MH089208-02