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Abstract
Grant Number: 4R44DK062743-02 PI Name: PRUDENT, JAMES R. PI Email: jprudent@eragen.com PI Title: CHIEF SCIENTIFIC OFFICER Project Title: Rapid and Inexpensive Multi-allele Cystic Fibrosis Assay Abstract: DESCRIPTION (provided by applicant): Cystic fibrosis is the most common autosomal recessive genetic disease in the United States. With the recent recommendation for multi-mutation CF screening by the ACMG/ACOG, more labs will be implementing multiplexed genotyping assays. Presently, DNA diagnostic tests for CF are expensive, complicated to run and limited to certain ethnic backgrounds. Using a powerful new technology called AEGIS we propose developing a fast, inexpensive, reliable and easy to run a multiplexed mutation detection system for clinical screening of mutations in the CFTR gene that cause CF in the majority of Americans. In Phase I, proof of concept studies will take place to show that the system is feasible for testing CF mutations on human genomic samples. In Phase Il, we intend to develop a clinical diagnostic assay multi-mutation carrier and newborn CF screening. PROPOSED COMMERCIAL APPLICATIONS: This project could result in an easy to run, low-cost, high-throughput, and ultrasensitive method for Cystic Fibrosis DNA mutation screening that minimizes PCR amplicon handling and is run on an inexpensive validated instrument platform. In addition, validation from this project will open the doors to other test kit development such as population carrier screening for other genetic diseases and research based chromosome mapping studies.
Thesaurus Terms:
cystic fibrosis, diagnostic test, gene mutation, technology /technique development
allele, chloride channel, diagnosis design /evaluation, genetic screening, genotype, serology /serodiagnosis
clinical research, human tissue
Institution: ERAGEN BIOSCIENCES, INC. 918 DEMING WAY, STE 201 MADISON, WI 53717 Fiscal Year: 2003 Department: Project Start: 06-SEP-2002 Project End: 28-FEB-2005 ICD: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES IRG: ZRG1