title: Pharmacogenetics of cystic fibrosis treatment.
abstract: Cystic fibrosis (CF) is genetic autosomal recessive disease caused by reduced or absent function of CFTR protein. Treatments for patients with CF have primarily focused on the downstream end-organ consequences of defective CFTR. Since the discovery of the CFTR gene that causes CF in 1989 there have been tremendous advances in our understanding of the genetics and pathophysiology of CF. This has recently led to the development of new CFTR mutation-specific targeted therapies for select patients with CF. This review will discuss the characteristics of the CFTR gene, the CFTR mutations that cause CF and the new mutation specific pharmacological treatments including gene therapy that are contributing to the dawning of a new era in cystic fibrosis care.
authors.affiliation: National Referral Centre for Adult Cystic Fibrosis, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
authors.forename: Suzanne C
authors.initials: SC
authors.lastname: Carter
authors.affiliation: National Referral Centre for Adult Cystic Fibrosis, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
authors.forename: Edward F
authors.initials: EF
authors.lastname: McKone
mesh_terms: D003550:Cystic Fibrosis / Q000188:drug therapy* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010597:Pharmacogenetics
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: correctors; cystic fibrosis; cystic fibrosis transmembrane conductance regulator; gene therapy; genetics; ivacaftor; lumacaftor; modulators; potentiators