Among 80,000 CF patients worldwide, almost 2,000 CFTR variants have been reported. However, the molecular mechanisms that underlie the physiologic consequences for the majority of these rare variants are unknown. This session will detail our current understandings & approaches to restoring the function of these rare, non-F508del CFTR variants.
Describe how rare mutations cause CFTR dysfunction using genetic & cell biological approaches.
Describe the approach to developing novel, mechanism based small molecule therapeutic options to treat patients with rare mutations in a personalized fashion.
Describe the uses of induced pluripotent stem cells & gene editing strategies in targeted correction & restoration of CFTR function.