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

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

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. Project Status


Funder Department of Defense
Fiscal Year Funding $158,649.00
Current Award Period 2011-2013
Project Number AR100533
Principal Investigator Lin, Michael
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Molecular Pathways
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.
Federal or Private? Federal
Institution Stanford University
State/Country California
Web Link 1 Modulation of fxr1 splicing as a treatment strategy for autism in fragile X syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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