Innovative Molecular Platform for Prenatal Diagnostics

Award Information
Agency:
Department of Health and Human Services
Amount:
$201,616.00
Program:
SBIR
Contract:
1R43HD069052-01
Solitcitation Year:
2011
Solicitation Number:
PA10-050
Branch:
N/A
Award Year:
2011
Phase:
Phase I
Agency Tracking Number:
R43HD069052
Solicitation Topic Code:
NICHD
Small Business Information
GIGAGEN, INC.
409 Illinois Street, SAN FRANCISCO, CA, 94158-
Hubzone Owned:
N
Woman Owned:
N
Socially and Economically Disadvantaged:
N
Duns:
963285189
Principal Investigator
 DAVID JOHNSON
 (415) 978-2101
 djohnson@gigagen.com
Business Contact
 DAVID JOHNSON
Phone: (415) 978-2101
Email: djohnson@gigagen.com
Research Institution
 Stub
Abstract

DESCRIPTION (provided by applicant): The goal of this application is to develop a customized molecular platform for prenatal diagnosis that combines our proprietary padlock probe technology with the power of next-generation sequencing. The molecular platform combines comprehensiveness with customization more effectively than currently available methods, and promises to reduce per sample cost of goods to below 100. The technology enables simultaneous detection of Mendelian disorders, aneuploidy, uniparentaldisomy, and unbalanced structural abnormalities. Sequence capture is performed multiplexed in a single tube, in conjunction with any next-generation sequencing platform. Because the method is easy to customize, molecular geneticists will be able to add new alleles or create customized pools for certain at-risk ethnic populations. Once they are synthesized, individual probe freezer stocks can be mixed to create customized pools for virtually any future application. This application proposes to optimize thepadlock probe technology and then build a 200,000-plex probe pool for prenatal diagnostics. First, we propose to map the genome coordinates for disease alleles from 18 Mendelian congenital disorders of interest to the prenatal specialist. Second, we propose to build a 1,000-plex pilot probe pool that will be used to optimize probe design, synthesis, and sequence capture. Third, we propose to use these optimized to synthesize a 200,000-plex probe pool specifically for prenatal diagnostics. Finally, we will validate the molecular technology on archival genomic DNA, amniotic fluid, and fetal nucleated red blood cells (FNRBCs). Eventually, we will market the technology to laboratories performing routine amniotic screening as well as noninvasive prenatal diagnostics. The probe pool could also be used generically for any routine molecular karyotyping application, such as cancer diagnostics or preimplantation genetic diagnosis. PUBLIC HEALTH RELEVANCE: We are developing new methods that will help to detect genetic problems before babies are born. Current methods are expensive and not customizable. We are using new technology for DNA sequencing that may one day make this process easier for geneticists.

* information listed above is at the time of submission.

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