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

Gene silencing in fragile X syndrome  

Fragile X mental retardation syndrome (FXS) is the most common familial cause of intellectual disability and the most common known cause of autism. FXS arises when the number of CGG nucleotide repeats in the 5' UTR of the FMR1 gene exceeds 200. This results in FMR1 silencing and subsequent deficiency of FMRP protein. The FMRP deficiency in the brain results in aberrant dendritic spine morphology and a defective response to synaptic activation. This proposal aims to identify the mechanisms responsible for gene silencing of the FMR1 gene, with the ultimate goal of identifying steps that may be amenable to pharmacological intervention. Project Status


Funder National Institutes of Health
Fiscal Year Funding $312,908.00
Project Number 1ZIADK057602-13
Principal Investigator Usdin, Karen
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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 National Institutes of Health (NIH)
State/Country Maryland
Web Link 1 Gene silencing in fragile X syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Gene silencing in fragile X syndrome | $323,483.00 | 2010 | 1ZIADK057602-14
Gene silencing in fragile X syndrome | $321,321.00 | 2008 | Z01DK057602-12