Cystic fibrosis: therapies targeting specific gene defects

Rebecca M Thursfield; Jane C Davies

doi:10.1016/j.prrv.2012.04.003

Cystic fibrosis: therapies targeting specific gene defects

Paediatr Respir Rev. 2012 Dec;13(4):215-9. doi: 10.1016/j.prrv.2012.04.003. Epub 2012 May 9.

Authors

Rebecca M Thursfield¹, Jane C Davies

Affiliation

¹ National Heart and Lung Institute, Imperial College, Manresa Road, London, SW3 6LR. r.thursfield11@imperial.ac.uk

PMID: 23069118
DOI: 10.1016/j.prrv.2012.04.003

Abstract

Cystic Fibrosis (CF) is caused by a large number of mutations in the CFTR gene, leading to specific classes of protein defects. This review discusses these classes, an understanding of which has paved the way for novel treatment strategies. The progress in this field, through from basic research to, in one case, application for license, is described.

Publication types

Review

MeSH terms

Cystic Fibrosis / genetics*
Cystic Fibrosis / therapy*
Cystic Fibrosis Transmembrane Conductance Regulator / physiology*
Genetic Therapy*
Humans
Molecular Targeted Therapy*
Mutation / genetics

Substances

Cystic Fibrosis Transmembrane Conductance Regulator