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

Neural and phenotypic correlates of autism risk genes  

This project aims to understand variability in the autism phenotype by examining links between known genetic risk factors for autism and brain structure and function. Eighty children with autism and 40 controls will undergo a comprehensive phenotyping assessment, high field structural magnetic resonance imaging (MRI), and functional MRI using three tasks that differentiate typically developing children from those with autism. This study will focus on five autism risk polymorphisms and one known genetic syndrome, 22q11deletion, with the goal of identifying structural and functional brain abnormalities that are linked to autism risk polymorphisms and in turn to link these neural anomalies to variations in the autism phenotype. Profiles of imaging phenotypes in autism will be developed that will help identify valid autism subtypes based on brain structure and function, and these phenotypes will be linked to their genetic origins. Project Status


Funder National Institutes of Health
Fiscal Year Funding $545,057.00
Project Number 1R01HD065280-01
Principal Investigator Bookheimer, Susan
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 University of California, Los Angeles
State/Country California
Web Link 1 Neural and phenotypic correlates of autism risk genes (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Neural and phenotypic correlates of autism risk genes | $545,057.00 | 2010 | 5R01HD065280-02