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Abstract

Grant Number:	5R44DK061880-03
PI Name:	RUNDELL, CLARK A.
PI Email:	rundell@mmqci.com
PI Title:
Project Title:	VALIDATION PRODUCTS FOR CYSTIC FIBROSIS MOLECULAR TESTS

Abstract: DESCRIPTION (provided by applicant): This Phase II project develops a novel, comprehensive set of control products for quality assurance of molecular-based cystic fibrosis (OF) diagnostic tests. Controls are tested alongside patient specimens, as required by Federal regulations, to ensure quality in medical testing. Adoption of molecular diagnostics technology is inhibited by lack of commercial quality controls. Patient-based materials are often used as controls, which presents issues of patient confidentiality, infection risk and limited supply. Phase I research demonstrated feasibility of an innovative system for production of stable, renewable, noninfectious controls. In Phase II, constructs will be engineered to contain 16 medically important CF gene segments that carry forty-seven common CF diagnostic mutations. A unique cassette scheme for assembly of segments will yield a construct easily modified to accommodate new molecular tests. The construct will be stabilized by a proprietary technology and suspended in a biological matrix to mimic patient samples. Our control set will validate CF diagnostic assays and will serve as a model system to produce quality assurance products for genetic tests designed to detect multiple mutations. The availability of these products is important to medical diagnostics and makes a significant contribution to patient care by ensuring quality of genetic testing results. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE

Thesaurus Terms:
cystic fibrosis, diagnosis design /evaluation, diagnostic test, genetic screening, method development
diagnosis quality /standard, gene expression, gene mutation, molecular cloning, plasmid
capillary electrophoresis, clinical research, human tissue, microarray technology, polymerase chain reaction, site directed mutagenesis

Institution:	MAINE MOLECULAR QUALITY CONTROLS, INC.
	81 RESEARCH DR
	SCARBOROUGH, ME 04074
Fiscal Year:	2003
Department:
Project Start:	01-MAY-2002
Project End:	30-APR-2004
ICD:	NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
IRG:	ZRG1

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