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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

RNA expression patterns in autism

Principal Investigator

Principal Investigator

Kunkel, Louis

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

705545

Current Award Period

Current Award Period

2008-2013

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

RNA expression patterns in autism (External web link)

Institution

Institution

Boston Children's Hospital

State/Country

State/Country

Massachusetts

Project Number

Project Number

5R01MH085143-04

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

RNA expression patterns in autism | 710306 | 2012 | 5R01MH085143-05

 
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