Genetics of Cystic Fibrosis: Clinical Implications

Anya T Joynt; Garry R Cutting; Neeraj Sharma

doi:10.1016/j.ccm.2022.06.003

Genetics of Cystic Fibrosis: Clinical Implications

Clin Chest Med. 2022 Dec;43(4):591-602. doi: 10.1016/j.ccm.2022.06.003.

Authors

Anya T Joynt¹, Garry R Cutting¹, Neeraj Sharma²

Affiliations

¹ McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
² McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: [email protected].

PMID: 36344068
DOI: 10.1016/j.ccm.2022.06.003

Abstract

Cystic fibrosis (CF) is a multiorgan disease caused by a wide variety of mutations in the cystic fibrosis transmembrane conductance regulator gene. As treatment has progressed from symptom mitigation to targeting of specific molecular defects, genetics has played an important role in identifying the proper precision therapies for each individual. Novel therapeutic approaches are focused on expanding treatment to a greater number of individuals as well as working toward a cure. This review discusses the role of genetics in our understanding of CF with a particular emphasis on how genetics informs the exciting landscape of current and novel CF therapies.

Keywords: Allelic heterogeneity; Cystic fibrosis transmembrane conductance regulator; Genotype agnostic; Precision therapies.

Publication types

Review
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural

MeSH terms

Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis Transmembrane Conductance Regulator / therapeutic use
Cystic Fibrosis* / genetics
Cystic Fibrosis* / therapy
Humans
Mutation

Substances

Cystic Fibrosis Transmembrane Conductance Regulator