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

Genomic imbalances in autism  

Using a novel, state-of-the-art approach called array comparative genomic hybridization (aCGH), researchers have recently discovered a small deletion containing 24 genes on Chromosome 16p11.2 that represents one of the most frequent chromosomal abnormalities described in autism to date. In the proposed study, Dr. Kumar will extend this finding by selecting the most promising candidate genes for involvement in autism from this newly identified 16p11.2 chromosomal region. These genes will be examined in patients to search for the presence of mutations significantly associated with autism. In addition, aCGH will be used to identify additional novel submicroscopic chromosomal rearrangements in a sample of approximately 300 patients with autism who have not been previously tested for these abnormalities. The identification of novel candidate genes and chromosomal abnormalities in patients with autism will further our understanding of the genetic factors conferring risk of autism and may improve the accuracy of diagnostic tests for this disorder. Project Status


Funder Autism Speaks
Fiscal Year Funding $0.00
Project Number 4803
Principal Investigator Kumar, Ravinesh
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 Chicago
State/Country Illinois
Web Link 1 Genomic imbalances in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genomic imbalances in autism | $50,000.00 | 2010 | 4803
Genomic imbalances in autism - AS | $49,500.00 | 2008 | 4803
Genomic imbalances in autism - NIH | $494,308.00 | 2008 | R01NS051812-04