A new Era of Personalized Medicine for Cystic Fibrosis – at Last!

The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies i...

Full description

Saved in:
Bibliographic Details
Main Authors: Bradley S Quon, Pearce G Wilcox
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Canadian Respiratory Journal
Online Access:http://dx.doi.org/10.1155/2015/921712
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849404986829570048
author Bradley S Quon
Pearce G Wilcox
author_facet Bradley S Quon
Pearce G Wilcox
author_sort Bradley S Quon
collection DOAJ
description The gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF.
format Article
id doaj-art-48e7c668025e4cf0a27b35b0ea29adf6
institution Kabale University
issn 1198-2241
language English
publishDate 2015-01-01
publisher Wiley
record_format Article
series Canadian Respiratory Journal
spelling doaj-art-48e7c668025e4cf0a27b35b0ea29adf62025-08-20T03:36:48ZengWileyCanadian Respiratory Journal1198-22412015-01-0122525726010.1155/2015/921712A new Era of Personalized Medicine for Cystic Fibrosis – at Last!Bradley S Quon0Pearce G Wilcox1Centre for Heart Lung Innovation, University of British Columbia and St Paul’s Hospital, CanadaCentre for Heart Lung Innovation, University of British Columbia and St Paul’s Hospital, CanadaThe gene responsible for cystic fibrosis (CF) was discovered 25 years ago. This breakthrough has enabled a sophisticated understanding of how various mutations lead to specific alterations in the structure and function of the CF transmembrane regulator (CFTR) protein. Until recently, all therapies in CF were focused on ameliorating the downstream consequences of CFTR dysfunction. High-throughput drug screening approaches have yielded compounds that can modify CFTR structure and function, thus targeting the basic defect in CF. The present article describes the CFTR mutational classes, reviews mutation-specific therapies currently in late-phase clinical development, and highlights research opportunities and challenges with personalized medicine in CF.http://dx.doi.org/10.1155/2015/921712
spellingShingle Bradley S Quon
Pearce G Wilcox
A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
Canadian Respiratory Journal
title A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
title_full A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
title_fullStr A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
title_full_unstemmed A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
title_short A new Era of Personalized Medicine for Cystic Fibrosis – at Last!
title_sort new era of personalized medicine for cystic fibrosis at last
url http://dx.doi.org/10.1155/2015/921712
work_keys_str_mv AT bradleysquon aneweraofpersonalizedmedicineforcysticfibrosisatlast
AT pearcegwilcox aneweraofpersonalizedmedicineforcysticfibrosisatlast
AT bradleysquon neweraofpersonalizedmedicineforcysticfibrosisatlast
AT pearcegwilcox neweraofpersonalizedmedicineforcysticfibrosisatlast