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

Identifying and understanding the action of autism susceptibility genes  

The symptoms and severity of autism spectrum disorders vary greatly between affected individuals, and relatives often show milder, but related, cognitive and behavioral difficulties. Some genetic defects have been linked to autism, but the resulting phenotypes could be influenced by other factors such as environmental variables and the parent from whom the mutations were inherited. Drs. Monaco and Bailey aim to untangle some of these complex relationships using a multidisciplinary approach. Two areas of chromosomes 2 and 7 have been associated with autism, and the researchers propose to analyze a set of families with autism to identify the specific sequence variations in those areas that are most strongly linked to the disorder. Once the susceptibility genes are identified, the researchers plan to examine the normal function of the genes, how their function is altered by the variants, and how those alterations might contribute to the disorder. In addition to the genetic studies, the researchers plan to assess the social abilities, facial recognition skills, behavioral traits, and neurological characteristics of the affected individuals, their parents, and unaffected siblings. This information, along with the genetic results, may help understand how the autism-linked sequence variants are inherited and how they result in a range of symptoms. Project Status
ONGOING

2009

Funder Simons Foundation
Fiscal Year Funding $204,810.00
Project Number SF17
Principal Investigator Monaco, Anthony
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 University of Oxford
State/Country United Kingdom
Web Link 1 Identifying and understanding the action of autism susceptibility genes (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Identifying and understanding the action of autism susceptibility genes | $0.00 | 2010 | SF17
Identifying and understanding the action of autism susceptibility genes | $409,620.00 | 2008 | Project number unavailable