Transformative therapies for rare CFTR missense alleles

KE Oliver, ST Han, EJ Sorscher, GR Cutting - Current opinion in …, 2017 - Elsevier
Highlights•CFTR missense alleles exhibit diverse mechanisms of dysfunction.•Compounds
targeting specific classes of CFTR defects have been variably successful.•Methods and
models utilized for studying CFTR variants are continually improving.•Characterizing each
CFTR variant will facilitate approaches to precision medicine.•Genetic tools under
development may lead to future treatments for all forms of CF.With over 1900 variants
reported in the cystic fibrosis transmembrane conductance regulator (CFTR), enhanced …