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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

Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome

Principal Investigator

Principal Investigator

Lin, Michael

Description

Description

The most common known genetic cause of autism is Fragile X Syndrome. Fragile X Syndrome is caused by the loss of expression in the brain of the Fragile X Mental Retardation Protein, abbreviated FMRP. In humans, there are multiple other proteins that are closely related to FMRP that are expressed in the brain. These proteins are similar in structure to FMRP, and we hypothesize that higher expression of one of them in the brain could ameliorate the effects of FMRP loss. We will carry out experiments to explore this hypothesis. The function of FMRP is to bind a specific set of messenger RNAs and regulate their translation into proteins. First, we will determine which FMRP-related proteins bind similar messenger RNAs as FMRP. Second, we will screen in a high-throughput assay for drugs that increase the levels of the protein that is most similar in function to FMRP. These experiments, if successful, may lead to a new treatment strategy for Fragile X syndrome, with implications for other autism spectrum disorders.

Funder

Funder

Department of Defense - Autism Research Program

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2011-2013

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Green dot: Objective has greater than or equal to the recommended funding. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome (External web link)

Institution

Institution

Stanford University

State/Country

State/Country

California

Project Number

Project Number

AR100533

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome | 158649 | 2010 | AR100533
Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome | 0 | 2011 | AR100533

 
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