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

Signatures of gene expression in autism spectrum disorders  

The initial conditions that disrupted neural development are difficult to identify after autism has been diagnosed, but hints might be found in the patterns of gene expression that those conditions leave behind. Kunkel and his team plan to compare the expression profiles in blood samples from families affected by autism with those from healthy controls, searching for differences that might indicate a gene expression 'signature' for the disorder; many genes expressed in the brain are also expressed in blood cells. Patterns of gene expression do not always reflect the final protein composition, however, in part because primary transcripts can be alternatively spliced into several, distinct messenger RNA (mRNA) sequences called isoforms. Kunkel and colleagues propose that atypical patterns of mRNA isoforms expressed in neurons may lead to the abnormal brain development seen in autistic brains. To search for these patterns, they plan to analyze patterns of mRNA isoforms in blood and autopsy brain samples from people with the disorder, focusing on the transcripts expressed in late neuronal development, around the time of autism onset. These studies may lead to a simple test for diagnosing the disorder and may implicate new cellular pathways in autism, opening up new avenues for research. Project Status


Funder Simons Foundation
Fiscal Year Funding $75,000.00
Current Award Period 2008-2011
Project Number 95117
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 No URL available.
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Signatures of gene expression in autism spectrum disorders | $150,000.00 | 2009 | 95117
Signatures of gene expression in autism spectrum disorders | $0.00 | 2011 | 95117