This module will examine molecular and cellular aspects of the causes and the treatment for cystic fibrosis (CF) disease. The first three two-hour sessions of the course will consist of lectures by Dr. Charles Deber and Dr. Christine Bear, while the latter three two-hour sessions will consist of oral presentations by the students.

Dr. Deber’s lectures will focus on the cystic fibrosis transmembrane conductance regulator (CFTR) – the membrane protein that is defective in CF patients – in the context of the numerous CF-phenotypic point mutations, and how these mutations in CFTR may affect its structure. Recent findings from the high resolution structure of CFTR and binding of potentiator drugs will be presented.  Aspects of the lung infections that result from CFTR defects, including formation of bacterial biofilms, and treatment with currently-available antibiotics, will be described.

Dr. Bear will discuss the consequences of CF-disease-causing mutations on the functional expression of CFTR channel activity in various cell models and in patient-derived tissues (including tissues differentiated from pluripotent stem cells); the importance of such patient-oriented research in revealing the role of genetic modifiers in determining CF disease severity; and the recent development of mutation-targeted therapies in treating CF