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

Identification and functional characterization of gene variants  

The genetic predisposition to autism is likely to be conferred by multiple genes and gene variants. As there is a strong familial component to autism, even the unaffected siblings of autistic children may carry multiple vulnerability genes that are also carried by their autistic siblings. It is hypothesized that unaffected siblings may therefore have additional, protective genetic variants, which confer resistance to the development of autism and which are missing in their autism-affected siblings. Previous research from the Persico laboratory has identified two gene loci as candidate protective genes in unaffected siblings of children with autism. In the present study, these researchers will use DNA sequencing to characterize genetic variation at these loci. Next, they will determine the functional consequences of the expression of these protective gene variants using in vitro techniques. Identification and characterization of protective gene variants will be a powerful strategy in identifying therapeutic targets, which may prevent the negative effects of the vulnerability genes. Project Status


Funder Autism Speaks
Fiscal Year Funding $0.00
Current Award Period 2008-2010
Project Number 2461
Principal Investigator Persico, Antonio
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 Universita Campus Bio-Medico di Roma
State/Country Italy
Web Link 1 Identification and functional characterization of gene variants (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Identification and functional characterization of gene variants | $60,000.00 | 2009 | 2461
Identification and functional characterization of gene variants | $60,000.00 | 2008 | 2461