Emily’s Entourage (EE) has awarded Xingshen Sun $220,000 in funding to advance cystic fibrosis (CF) research and drug development. 

Title: Generating W1286X cystic fibrosis ferret model for examining nonsense mutation-directed therapies

Before a drug or treatment approach can be used in human clinical trials, it first needs to be tested in an animal model to assess safety and efficacy. However, no appropriate animal models with a cystic fibrosis transmembrane conductance regulator (CFTR) nonsense mutation are available to date. Previous studies demonstrate that the ferret is an ideal species for a CF model because it develops a lung disease that leads to respiratory failure and develops pancreatic diseases that lead to CF-related diabetes. This project will aim to generate a CF ferret model containing the W1286X mutation in the CFTR gene, similar to the human W1282X mutation. The ferret model will be used to test whether treatment using multiple drugs can reduce disease symptoms in the ferret. This new W1286X ferret model provides a new opportunity to accelerate the identification of effective and safe therapeutic approaches, significantly shortening the course of identifying new drugs or new therapeutic strategies for patients with CFTR-W1282X mutation, and potentially other nonsense mutations, in ways that cell-based systems or rodent models will not allow.