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Development of Novel Diagnostics for Fragile X Syndrome

Award Information

Agency:
Department of Health and Human Services
Branch:
N/A
Award ID:
89261
Program Year/Program:
2008 / SBIR
Agency Tracking Number:
HD058387
Solicitation Year:
N/A
Solicitation Topic Code:
N/A
Solicitation Number:
N/A
Small Business Information
JS GENETICS, LLC
RICHARD CHAMPAGNE 397 POST ROAD, SUITE 203 DARIEN, CT -
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Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No
 
Phase 1
Fiscal Year: 2008
Title: Development of Novel Diagnostics for Fragile X Syndrome
Agency: HHS
Contract: 1R43HD058387-01
Award Amount: $117,700.00
 

Abstract:

DESCRIPTION (provided by applicant): Fragile X Syndrome (FRAX), is the most common cause of mental retardation in males. The incidence of FRAX is 1 per 4000 in males and 1 per 8000 in females. FRAX is caused by the expansion of a CGG trinucleotide repeat of the 5' untranslated region (UTR) of FMR1 gene. This gene is located at chromosome Xq27.3. In normal individuals, the 5' UTR of the FMR1 gene contains 5 to 45 CGG repeats. However, over 200 repeats are found in individuals with FRAX. Presently, Southern Blot analysis is used to examine the size of the repeat segment and methylation status of the FRAX gene. Yet, this test only detects the gross size of CGG repeats and is highly labor intensive and expensive. PCR analysis can be used to examine the size of CGG repeats. This approach is limited, as the PCR reaction fails to amplify long stretches of CGG expansions. Recently, we developed a novel, highly efficient, accurate, test for diagnosing FRAX. This test relies on amplifying CGG repeat expansions by Site Specific Multiple Displacement Amplification (SSMDA), which capably amplifies very long stretches of GC-rich regions in the genome. SSMDA is followed by quantitative assessment of the numbers of CGG triplet repeats using real-time Polymerase Chain Reactio n. We hypothesize that using this new molecular-based screening method, we can develop an effective, rapid and low-cost screening test for FRAX with broad commercial application. We anticipate that this Phase 1 application will lead to the development of a new screening procedure for FRAX that is sensitive, accurate, inexpensive, and adaptable for high-throughput use. If successful, we anticipate these Phase 1 studies will lead to Phase 2 studies. If broadly applied, this strategy will be applicable for dia gnosing carriers of FRAX and individuals with FRAX.

Principal Investigator:

Seiyu Hosono
2037375970
S.HOSONO@JSGENETICS.COM

Business Contact:


Scott.Rivkees@Yale.edu
Small Business Information at Submission:

JS GENETICS, LLC
RICHARD CHAMPAGNE 397 POST ROAD, SUITE 203 DARIEN, CT 06820

EIN/Tax ID: 200819514
DUNS: N/A
Number of Employees: N/A
Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No