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

Comprehensive follow-up of novel autism genetic discoveries  

Dr. Daly and his colleagues previously reported that genetic variation in the 16p11.2 chromosomal region is a major risk factor for autism. Daly and colleagues also uncovered more than 100 other rare genetic variations that appear to contribute to risk of autism. Daly proposes that comparison of the autism-associated variants from two sources would be a powerful way to identify autism-related genes. The group's original study analyzed samples from the Autism Genetic Resource Exchange, a collection of samples from families that have multiple children with autism, suggesting inherited variants. The Simons Foundation Autism Research Initiative (SFARI) Simplex Collection, in contrast, gathers samples from families with one autistic child, but unaffected siblings and parents, in order to identify spontaneous or de novo variants. Daly and colleagues plan to perform a meta-analysis of the two collections to look for and characterize common variants. Genes uncovered in both collections would probably be influential in the development of autism. Combining the data sets may also help pinpoint causative variants. For example, the researchers plan to determine the precise boundaries of copy number variants in order to learn which genes are affected. They also plan to sequence the variants using quick and inexpensive new methods so that many samples can be analyzed to reveal genetic variations in the region. Their results may suggest how a particular variant leads to autism, for example by disrupting gene expression. Project Status


Funder Simons Foundation
Fiscal Year Funding $289,026.00
Project Number SFARI-07-10
Principal Investigator Daly, Mark
Received ARRA Funding? No
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. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.
Federal or Private? Private
Institution Massachusetts General Hospital
State/Country Massachusetts
Web Link 1 Comprehensive follow-up of novel autism genetic discoveries (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Comprehensive follow-up of novel autism genetic discoveries | $0.00 | 2010 | SFARI-07-10
Comprehensive follow-up of novel autism genetic discoveries | $289,026.00 | 2008 | Project number unavailable