With over 1,000 known CFTR mutations, which are associated with varying symptoms and severity of disease, identifying the best approaches to treat different mutations remains challenging. This workshop will focus on the CFTR defects caused by rare mutations and the strategies to understand and mitigate the defects caused by them. The speakers will present: a) basic research using biophysical, biochemical and electrophysiological approaches to assess the response of mutant CFTR to correctors; b) translational studies where approaches using patient derived cell models for personalized medicine will be discussed; and c) clinical research studies employing Ivacaftor for rare CFTR mutations.
Describe how different mutations cause CFTR dysfunction and understand strategies to rectify these problems.
Discuss personalized medicine approaches to identify the most effective treatment for individual patients.
Identify novel diagnostic and therapeutic options to treat patients with rare CFTR mutations.