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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 retrotransposons in autism spectrum disorders

Principal Investigator

Principal Investigator

Kazazian, Haig

Description

Description

To date, the predicted major genetic component of autism spectrum disorders (ASD) has been explored using single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) with success in finding the cause of a small minority of ASD cases. Here, researchers add another form of genome variation, retrotransposon-induced polymorphisms (RIPs), to the search for ASD etiology. Retrotransposons are genetic elements that can amplify themselves in a genome and are an often-overlooked source of inter-individual genomic variation in mammals. Researchers in this study have developed a technique to locate retrotransposon insertions with good specificity and sensitivity by high-throughput sequencing, and have been using it to find human-specific insertions from various individuals. This new high-throughput technology will be used to examine whether retrotransposition plays a role in the genetic susceptibility to autism-spectrum disorders (ASDs).

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

2078635

Current Award Period

Current Award Period

2010-2013

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. 3LB. Identify genetic risk factors in at least 50% of people with ASD by 2014. IACC Recommended Budget: $33,900,000 over 6 years.

Project Link

Project Link

The role of retrotransposons in autism spectrum disorders (External web link)

Institution

Institution

Johns Hopkins University

State/Country

State/Country

Maryland

Project Number

Project Number

1RC4MH092880-01

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

Yes

History/Related Projects

History/Related Projects

N/A

 
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