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

RNA expression studies in autism spectrum disorders  

ASD is very likely primarily a disorder that affects the brain which is a tissue of limited quantity for robust studies. One of the easiest tissues to collect is peripheral blood and it can be obtained from large numbers of patients and their family members. We have substantial preliminary data that whole blood can be a surrogate for both expression studies in ASD as well as epigenetics of methylation status around genes in whole blood. These samples and studies of whole blood will be augmented by our studies of splicing patterns in autopsy brains in ASD individuals and the RNA editing which might be found to differ from patients and controls. The combined expertise of the Harvard and Emory collaborators should assure that the aims of this proposal are accomplished which should lead to improved diagnosis of the disorders, a better understanding of the pathogenesis of the disease and possible rationale insights into therapies. Project Status


Funder Simons Foundation
Fiscal Year Funding $250,000.00
Current Award Period 2010-2013
Project Number 178061
Principal Investigator Kunkel, Louis
Received ARRA Funding? No
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Subcategory Early Signs and Biomarkers
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 1LA. Identify behavioral and biological markers that separately, or in combination, accurately identify, before age 2, one or more subtypes of children at risk for developing ASD, and evaluate whether these risk markers or profiles can improve early identification through heightened developmental monitoring and screening by 2014. IACC Recommended Budget: $33,300,000 over 5 years.
Federal or Private? Private
Institution Children's Hospital Boston
State/Country Massachusetts
Web Link 1 RNA expression studies in autism spectrum disorders (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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