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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

Development of novel diagnostics for fragile X syndrome

Principal Investigator

Principal Investigator

Hosono, Seiyu

Description

Description

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.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

532677

Current Award Period

Current Award Period

2010-2012

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

Development of novel diagnostics for fragile X syndrome (External web link)

Institution

Institution

JS Genetics, Inc.

State/Country

State/Country

Connecticut

Project Number

Project Number

2R44HD058387-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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