Grant: Operating Grant: Industry-partnered Collaborative Research - Rx&D partner

Cystic fibrosis is the most common fatal genetic disease. It affects at least 80,000 patients worldwide, imposing enormous burdens on the patient, their families and on society. Advances in early detection, antibiotic therapy and care have seen the median age for survival of CF patients increase to 37 years. However, despite the discovery 20 years ago, of the gene for CFTR and the most common mutation DeltaF508 causing CF, there is no therapy based on correcting the basic defect. It is known that the mutant DeltaF508CFTR protein is retained in the endoplasmic reticulum and does not traffic to the plasma membrane where it can function. We have developed an assay for screening "correctors" of this trafficking defect and isolated a variety of hit compounds that are effective in a variety of trafficking and functional assays that we have developed. In this collaboration with GlaxoSmithKline Inc., we will develop some of these compounds as therapeutics. As an orphan disease, CF has not been a priority with major pharmaceutical companies, thus this project is an excellent opportunity to combine the strengths and resources of university and pharmaceutical company expertise to develop a CF corrector therapy.