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GEN News Highlights : Mar 15, 2012

Horizon, RFUMS to Generate Human Cell Cystic Fibrosis Model

Model that recapitulates most common mutation will be designed for use in diagnostics, drug discovery.

Horizon Discovery and the Rosalind Franklin University of Medical Sciences (RFUMS) are collaborating to develop a human cellular disease model of cystic fibrosis, developed using Horizon’s Genesis™ genome editing technology. The cell model will comprise a lung cancer cell line that expresses in its own genome the specific CFTR mutation responsible for about 90% of cystic fibrosis patients.

Under terms of the partnership deal, RFUMS receives a perpetual academic research-use license to the relevant materials, and Horizon will be responsible for commercial distribution of the resulting cell lines. Funding for the project will come through a grant awarded to the RFUMS by Cystic Fibrosis Foundation Therapeutics. Horizon says it plans to develop commercially available reference standards based on the modified cell line for use in quality assessment of cystic fibrosis tests.

FDA recently approved the first CFTR therapeutic for cystic fibrosis patients, but, as lead RFUMS researchers Neil Bradbury, M.D., points out, fewer than 5% of cystic fibrosis patients carry the mutational profile for which the drug was developed. “We hope that by creating this tool targeting the more common CFTR mutation, we can ultimately improve the lives of a far greater proportion of cystic fibrosis sufferers,” he remarks. “Studies using non-human cell models have identified several potential CFTR therapeutics from high-throughput screens. We hope to improve the efficacy of this process by creating a more informative screening tool with Horizon’s isogenic disease model cell lines, which we believe will also be useful for the broader research community.”