Project Detail
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Genetic studies in autism on chromosome 7 (supplement)  

Epidemiologic data has implicated a strong genetic component in autism spectrum disorders (ASD). This study will examine the most consistently identified chromosomal region in autism, 7q21-32, to try to identify the gene on this chromosome that is linked to ASD. A multi-pronged approach will be used, including a comprehensive scan for single nucleotide polymorphisms (DNA sequence variations) in the region and evaluation of candidate genes by haplotype mapping, mutation analysis, methylation and cytogenetic studies and, where possible, for transcription and gene expression. Particular attention will be paid to genes surrounding the regions on chromosome 7 that were breakpoints in the translocation process. Ultimately, the goal of these studies is to identify the gene on chromosome 7 that is linked to autism, representing a fundamental step in understanding the genetic basis of the disorder. Project Status


Funder National Institutes of Health
Fiscal Year Funding $17,887.00
Project Number 3P01NS026630-20S1
Principal Investigator Pericak-Vance, Margaret
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. 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 Duke University
State/Country North Carolina
Web Link 1 Genetic studies in autism on chromosome 7 (supplement) (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Genetic studies in autism on chromosome 7 | $180,463.00 | 2008 | P01NS026630-20