Version 2.1.1.0

Abstract

Grant Number:	1R43HL073656-01
PI Name:	PRUDENT, JAMES R.
PI Email:	jprudent@eragen.com
PI Title:	CHIEF SCIENTIFIC OFFICER
Project Title:	Novel Assay Development for CFTR Genotyping

Abstract: DESCRIPTION (provided by applicant): The goal of this project, over Phase I and Phase II, is to develop and validate a new diagnostic platform for CFTR genotyping that provides closed tube, hands off, inexpensive and rapid testing. The American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) has recently recommended that couples planning to have a child be tested for mutations within the cystic fibrosis (CF) gene (CFTR). Thus, there is a real and growing market for a CFTR diagnostic assay. Today's testing systems for CFTR genotyping are complicated to perform, have problems with amplicon carry-over, and take hours to perform. With this grant funding, we will develop a testing system for CFTR genotypes using our novel platform GENE-CODE 2.0. GENE-CODE 2.0 employs an expanded genetic information system (AEGIS) that allows for site-specific enzymatic incorporation of reporter molecules during PCR. Preliminary data suggests that GENE-CODE 2.0 can be used effectively to genotype such targets as CFTR deltaF508, prothrombin and hereditary hemachromatosis. In Phase I we will design and demonstrate the platform on the ACMG/ACOG recommended set of CFTR mutations individually. In Phase II we will develop a complete system to analyze all ACMG/ACOG recommended CFTR mutations simultaneously. In addition, with internal assay capabilities, the system should allow the manufacturer to upgrade sequence specificity in an ultra-fast manner to include additional targets that will arise to include additional ethnic populations.

Thesaurus Terms:
chloride channel, cystic fibrosis, diagnostic test, genetic screening, genotype, technology /technique development
diagnosis design /evaluation, gene expression, gene mutation, inborn biological transport disorder, inborn metabolism disorder diagnosis, molecular biology information system, rapid diagnosis
high performance liquid chromatography, high throughput technology, polymerase chain reaction

Institution:	ERAGEN BIOSCIENCES, INC.
	918 DEMING WAY, STE 201
	MADISON, WI 53717
Fiscal Year:	2003
Department:
Project Start:	01-AUG-2003
Project End:	31-JAN-2004
ICD:	NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
IRG:	ZRG1

---