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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

Human neurobehavioral phenotypes associates with the extended PWS/AS domain

Principal Investigator

Principal Investigator

Beaudet, Arthur

Description

Description

Genetic variation on chromosome 15 (e.g., 15q11-q13) is common and can cause numerous brain disorders, including Prader-Willi syndrome, Angelman syndrome, mental retardation, autism, epilepsy, schizophrenia, and bipolar disorder. Researchers in this study will better define genotype/phenotype correlations stemming from mutations and gene alterations in this region of chromosome 15. They will utilize gene expression analysis and epigenetic studies of human brain tissue comparing duplications of the 15q11-q13 region with controls. Duplications of this region on the maternal chromosome specifically cause autism, while duplications on the paternal chromosome do not. Therefore, understanding the molecular basis for this difference should shed considerable light on the causes of autism that are not caused by changes in DNA sequence.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

618967

Current Award Period

Current Award Period

2010-2015

Strategic Plan Question

Strategic Plan Question

Question 3: What Caused This To Happen And Can This Be Prevented?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 3SJ. Support at least three studies that focus on the role of epigenetics in the etiology of ASD, including studies that include assays to measure DNA methylations and histone modifications and those exploring how exposures may act on maternal or paternal genomes via epigenetic mechanisms to alter gene expression, by 2012. IACC Recommended Budget: $20,000,000 over 5 years.

Project Link

Project Link

Human neurobehavioral phenotypes associates with the extended PWS/AS domain (External web link)

Institution

Institution

Baylor College of Medicine

State/Country

State/Country

Texas

Project Number

Project Number

5R01HD037283-13

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Human neurobehavioral phenotypes associates with the extended PWS/AS domain | 628392 | 2011 | 5R01HD037283-12

 
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