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

Development of novel diagnostics for fragile X syndrome  

The purpose of this Phase II Small Business Innovation Research (SBIR) grant is to develop a new molecular-based method for rapid and low-cost screening for fragile X with broad commercial application. Fragile X syndrome (FXS) is the most common genetic cause of mental retardation in males. FXS is caused by the expansion of DNA sequence via a series of CGG trinucleotide repeats in the FMR1 gene. In normal individuals, the FMR1 gene contains 5 to 45 CGG repeats; however, individuals with FXS have over 200 repeats. Current diagnostic screening for FXS involves molecular assays to determine the size of the repeat segment, but these assays only detect the gross size of CGG repeats and are labor intensive and expensive. In Phase I of this Small Business Innovation Research (SBIR) award, the researchers developed a novel, highly efficient and accurate screening test for diagnosing FXS. In Phase II, the researchers will further optimize this new assay, test it in a clinical diagnostic setting, and test how well the assay works in screening newborn blood spots. This research should lead to the optimization and implementation of a test that is suitable for low cost high-throughput screening for FXS. As such, this test has the potential to markedly change current screening processes for FXS. Project Status


Funder National Institutes of Health
Fiscal Year Funding $532,677.00
Current Award Period 2010-2012
Project Number 2R44HD058387-02
Principal Investigator Hosono, Seiyu
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 JS Genetics, Inc.
State/Country Connecticut
Web Link 1 Development of novel diagnostics for fragile X syndrome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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