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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Gene dosage imbalance in neurodevelopmental disorders

Principal Investigator

Principal Investigator

Ledbetter, David

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

690019

Current Award Period

Current Award Period

2010-2015

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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.

Project Link

Project Link

Gene dosage imbalance in neurodevelopmental disorders (External web link)

Institution

Institution

Weis Center For Research - Geisinger Clinc

State/Country

State/Country

Pennsylvania

Project Number

Project Number

7R01MH074090-07

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Gene dosage imbalance in neurodevelopmental disorders | 689795 | 2012 | 5R01MH074090-08
Gene dosage imbalance in neurodevelopmental disorders (supplement) | 195000 | 2012 | 3R01MH074090-08S1

 
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