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Identification and Characterization of Causative Genetic Biomarkers for…

Award Information

Agency:
Department of Health and Human Services
Branch:
N/A
Award ID:
Program Year/Program:
2010 / STTR
Agency Tracking Number:
R41NS065559
Solicitation Year:
2010
Solicitation Topic Code:
NINDS
Solicitation Number:
PA09-081
Small Business Information
POPULATION DIAGNOSTICS, INC.
105 MAXESS RD, STE 124S MELVILLE, NY 11747-3821
View profile »
Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No
 
Phase 1
Fiscal Year: 2010
Title: Identification and Characterization of Causative Genetic Biomarkers for Parkinson
Agency: HHS
Contract: 1R41NS065559-01A1
Award Amount: $199,281.00
 

Abstract:

DESCRIPTION (provided by applicant): The goal of this project is to rapidly discover biomarkers for Parkinson's Disease (PD) by defining the spectrum of causal genetic loci for PD, not only for the purpose of accurate diagnosis and risk stratification butalso in order to shed light on the underlying biology and pathways involved in PD pathogenesis for the purpose of future rational therapeutic development. There are 3 specific aims: 1. To perform array-based high-resolution oligonucleotide comparative genomic hybridization (aCGH) on 100 DNA samples from PD subjects for discovery of causal copy number variants (CNV). This will rely upon a subtractive methodology (PD cohort CNV frequency vs normal control CNV frequency to distinguish disease-specific genomic CNVs) utilizing external (publicly available) CNV databases in combination with an internal pre-existing database generated using a large number of normal individuals. 2. To validate significant PD-specific CNVs through the design of targeted assays (utilizing methods including exon specific MLPA and junction fragment PCR). 3. Having identified and validated PD-specific CNVs, to study in greater depth those that are the most promising (on the basis of frequency and genes implicated), by rapidly interrogating the total PD cohort (utilizing exon specific MLPA as well as next-generation sequencing, in order to cover any possible mutational mechanism), by comparison with a large number of normal control samples. PUBLIC HEALTH RELEVANCE: There isno doubt that the only rational approach to future therapeutic interventions in common disorders, such as Parkinson's Disease (PD), is one that will be based on a more precise knowledge of the underlying biological causes of such disorders. The successfulapplication of genome wide copy number analysis for biomarker development in PD will facilitate improved diagnostic testing and risk stratification as well as yielding insight into the underlying pathogenesis of PD, paving the way for research into specific interventions, whether pharmaceutical or otherwise.

Principal Investigator:

Eli Hatchwell
631-444-1206
elihatchwell@populationdiagnostics.com

Business Contact:

Jim Chinitx
516-316-5895
jimchinitz@populationdiagnostics.com
Small Business Information at Submission:

POPULATION DIAGNOSTICS, INC.
105 MAXESS RD, STE 124S MELVILLE, NY 11747-3821

EIN/Tax ID: 126026538
DUNS: N/A
Number of Employees: N/A
Woman-Owned: No
Minority-Owned: No
HUBZone-Owned: No
Research Institution Information:
State University New York Stony Brook
Stony Brook University
The Office Of Sponsered Programs
STONY BROOK, NY 11794-
Contact: