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

Human autism genetics and activity-dependent gene activation  

Autism and autism spectrum disorders (ASD) are a group of neurological conditions characterized by impairment in the ability to communicate, form relationships, and respond appropriately to the environment. Previous approaches to autism genetics have each led to the discovery of specific genes, mutations and biological mechanisms that play a role in autism. Yet in sum, the genes identified still leave unexplained the vast majority of the heritability of autism in humans - and, presumably, important etiological mechanisms that might (if known) productively guide development and deployment of therapy and prevention. This study will use the latest genetic technologies, including whole exome and genome sequencing, to significantly increase our knowledge of the genetic causes of autism. The discovery of genes that contribute to autism is critical not only for earlier and better diagnosis but also for informing strategies for prevention and therapy. Project Status


Funder National Institutes of Health
Fiscal Year Funding $2,474,114.00
Project Number 1RC2MH089952-01
Principal Investigator Walsh, Christopher
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 Children's Hospital Boston
State/Country Massachusetts
Web Link 1 Human autism genetics and activity-dependent gene activation (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A