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

Gene dosage imbalance in neurodevelopmental disorders  

Neurodevelopmental disorders, including intellectual disabilities and autism spectrum disorders (ASDs), are very common, affecting ~3% of the population. Recent evidence indicates remarkable genetic heterogeneity in what causes these disorders with a major role for rare copy number variations or CNVs (submicroscopic deletions or duplications of DNA). In this study, researchers will identify specific autism genes by performing comprehensive mutation analysis in well-phenotyped autistic patients from publicly available sources (e.g., Simons Simplex Collection, Autism Genetics Resource Exchange, and the NIMH repositories). Researchers hope to develop a novel, cost-effective strategy to leverage the CNV and phenotype data from tens of thousands of clinical diagnostic tests performed on children with neurodevelopmental disorders each year in the United States to identify the critical regions of the genome and individual genes responsible for these intellectual disabilities and ASDs. Project Status


Funder National Institutes of Health
Fiscal Year Funding $696,220.00
Current Award Period 2010-2015
Project Number 2R01MH074090-06
Principal Investigator Ledbetter, David
Received ARRA Funding? No
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Subcategory Diagnostic and Screening Tools
Strategic Plan Objective New! Green dot: Objective has greater than or equal to the recommended funding. 1SE. Conduct at least one study to determine the positive predictive value and clinical utility (e.g., prediction of co-occurring conditions, family planning) of chromosomal microarray genetic testing for detecting genetic diagnoses for ASD in a clinical setting by 2012. IACC Recommended Budget: $9,600,000 over 5 years.
Federal or Private? Federal
Institution Emory University
State/Country Georgia
Web Link 1 Gene dosage imbalance in neurodevelopmental disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects Not available at this time. This functionality is experimental.