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

Identifying and understanding the action of autism susceptibility genes  

Autism is a heritable disease, but the contribution of genetic factors is not straightforward. 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. Anthony Monaco and Anthony Bailey at the University of Oxford 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. Information on autism-linked genetic variants, the cellular pathways they affect, and their phenotypic consequences may also help identify factors that could be targeted to alleviate symptoms of autism. Project Status


Funder Simons Foundation
Fiscal Year Funding $0.00
Current Award Period 2006-2010
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? (Causes)
Subcategory Genetic 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.
History/Related Projects Identifying and understanding the action of autism susceptibility genes | $204,810.00 | 2009 | SF17
Identifying and understanding the action of autism susceptibility genes | $409,620.00 | 2008 | Project number unavailable