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

The role of retrotransposons in autism spectrum disorders  

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). Project Status


Funder National Institutes of Health
Fiscal Year Funding $2,078,635.00
Current Award Period 2010-2013
Project Number 1RC4MH092880-01
Principal Investigator Kazazian, Haig
Received ARRA Funding? Yes
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (Causes)
Subcategory Genetic Risk Factors
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.
Federal or Private? Federal
Institution Johns Hopkins University
State/Country Maryland
Web Link 1 The role of retrotransposons in autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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