Assay for Quantifying Fragile X Mental Retardation-1 Gene Product
Posted May 21 2013 8:00pm
Description of Invention: The invention is directed to a fluorescence based assay to quantify the protein product of the Fragile X Mental Retardation-1 (FMR1) gene in a biological sample.
Fragile X syndrome (FXS) is an X-linked genetic disease that is responsible for intellectual disability and is also the most common single gene cause of autism. FXS is typically caused by loss of expression of the FMR1 gene, which codes for an RNA-binding protein called FMRP. FXS patients exhibit a wide spectrum of symptoms with varying degrees of cognitive and psychosocial impairment. The severity of these symptoms correlates well with the levels of FMRP present in the FXS patient. Because the FMR1 gene is silenced in varying degrees, the levels of FMRP in any particular FXS patient could vary greatly.
Scientists at NIDDK and NCATS have developed a sensitive, time resolved fluorescence based assay to quantify FMRP levels in a biological sample. Unlike other assays, the invention assay utilizes two highly-specific antibodies that bind to different sites of FMRP so as to enable precise and reliable quantification. Currently, there is no approved drug to treat FXS. The invention assay can be used as a high throughput screen to identify and evaluate candidate drugs. In addition, the invention assay can be used to assess and/or predict the severity of a patient's condition based on the amount of FMRP present.
High throughput screen of drug libraries
Optimization assay to further develop potential drug candidates
Fast, accurate, and reliable assay to quantify FMRP in easy-to-use fluorescence based format
Collaborative Research Opportunity: The National Center for Advancing Translational Sciences (NCATS) is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize Assay for Quantifying Fragile X Mental Retardation-1 Gene Product. For collaboration opportunities, please contact the NCATS Technology Development Coordinator at NCATSPartnerships@mail.nih.gov .