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

RNA expression patterns in autism  

The working hypothesis of this proposal is that individuals with autism spectrum disorders (ASD) experience disturbances in the interplay between genetic predisposition, environmental triggers, and experience-mediated neuronal activity during a sensitive period of development, and that this leads to an altered program of gene expression. Thus the neurological disabilities that are characteristic of the disorder result from genetic variability in the processes of synaptic development, maturation, refinement, and connectivity that normally shape the brain and from an environmental insult that perturbs normal experience-dependent synaptic development. This study will include establishing a whole genome transcriptome in individuals with ASD and their parents by using peripheral blood lymphocytes; robust re-sequencing of candidate genes prioritized by bioinformatics; and looking for minor or aberrant splice forms of transcripts expressed in late stage neuronal development. This proposal offers a novel approach aimed at unraveling the genetic mechanisms, improving diagnosis, deciphering the interplay between environment and genetics, and developing rational approaches to therapy in autism. Project Status


Funder National Institutes of Health
Fiscal Year Funding $739,224.00
Project Number 5R01MH085143-02
Principal Investigator Kunkel, Louis
Received ARRA Funding? No
Strategic Plan Question Question 3: What Caused This To Happen And Can This Be Prevented? (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 Children's Hospital Boston
State/Country Massachusetts
Web Link 1 RNA expression patterns in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects RNA expression patterns in autism | $706,052.00 | 2010 | 5R01MH085143-03
RNA expression patterns in autism | $734,842.00 | 2008 | R01MH085143-01