Project Detail
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Office of Autism Research Coordination (OARC) logo

Determining the genetic basis of autism by high-resolution analysis of copy number  

The hypothesis for this study is that alterations in the number of copies of a gene in a cell, including heritable copy number polymorphisms (CNPs), are an underlying basis for autism. The researchers have developed a powerful approach for identifying CNPs: Representational Oligonucleotide Microarray Analysis (ROMA). The study will determine the role of CNPs in autism by determining disease association of CNPs in concordant sibling pairs. The results of this study will make substantial contributions to knowledge of the causes of autism and the role of specific genes in cognitive development. Project Status


Funder National Institutes of Health
Fiscal Year Funding $351,639.00
Project Number 5R01MH076431-05
Principal Investigator Sebat, Jonathan
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? Federal
Institution Cold Spring Harbor Laboratory
State/Country New York
Web Link 1 Determining the genetic basis of autism by high-resolution analysis of copy number (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A