Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

ABSTRACT: The genetic multisystem condition cystic fibrosis (CF) has seen a paradigm shift in therapeutic approaches within the past decade. Since the first clinical descriptions in the 1930s, treatment advances had focused on the downstream consequences of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) chloride ion channel. The discovery of the gene that codes for CFTR and an understanding of the way in which different genetic mutations lead to disruption of normal CFTR function have led to the creation and subsequent licensing of drugs that target this process. This marks an important move towards precision medicine in CF and results from clinical trials and real-world clinical practice have been impressive. In this review we outline how CFTR modulator drugs restore fun

SUBMITTER: Tewkesbury DH 

PROVIDER: S-EPMC8753614 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature