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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

The role of the Rett gene, chromosome 15q11-q13, other genes, and epigenetics

Principal Investigator

Principal Investigator

Beaudet, Arthur

Description

Description

The grantees hypothesize that more patients diagnosed with autism spectrum disorders have mutations or epimutations involving MECP2, genes within chromosome 15q11-q13, and the loci causing fragile X syndrome and tuberous sclerosis than is currently realized. This proposal will focus on in-depth genotype/phenotype and epigenotype/phenotype correlations in autistic patients with known abnormalities in these genes and regions with the goal of achieving further insights into more common forms of autism. In addition, typical autism patients will be assessed for novel forms of mutation or epimutation involving MECP2, genes within 15q11-q13, or other genes.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

1187

Current Award Period

Current Award Period

2010-2011

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

The role of the Rett gene, chromosome 15q11-q13, other genes, and epigenetics (External web link)

Institution

Institution

Baylor College of Medicine

State/Country

State/Country

Texas

Project Number

Project Number

5M01RR000188-47

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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