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Human Genetics

, Volume 135, Issue 9, pp 983–992 | Cite as

Impact of gene editing on the study of cystic fibrosis

  • Patrick T. Harrison
  • David J. Sanz
  • Jennifer A. Hollywood
Review
Part of the following topical collections:
  1. Genome Editing

Abstract

Cystic fibrosis (CF) is a chronic and progressive autosomal recessive disorder of secretory epithelial cells, which causes obstructions in the lung airways and pancreatic ducts of 70,000 people worldwide (for recent review see Cutting Nat Rev Genet 16(1):45–56, 2015). The finding that mutations in the CFTR gene cause CF (Kerem et al. Science 245(4922):1073–1080, 1989; Riordan et al. Science 245(4922):1066–1073, 1989; Rommens et al. Science 245(4922):1059–1065, 1989), was hailed as the very happy middle of a story whose end is a cure for a fatal disease (Koshland Science 245(4922):1029, 1989). However, despite two licensed drugs (Ramsey et al. N Engl J Med 365(18):1663–1672, 2011; Wainwright et al. N Engl J Med 373(3):220–231, 2015), and a formal demonstration that repeated administration of CFTR cDNA to patients is safe and effects a modest but significant stabilisation of disease (Alton et al. Lancet Respir Med 3(9):684–691, 2015), we are still a long way from a cure, with many patients taking over 100 tablets per day, and a mean age at death of 28 years. The aim of this review is to discuss the impact on the study of CF of gene-editing techniques as they have developed over the last 30 years, up to and including the possibility of editing as a therapeutic approach.

Keywords

Cystic Fibrosis Duchenne Muscular Dystrophy Cystic Fibrosis Patient Gene Editing Airway Surface Liquid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Patrick T. Harrison
    • 1
  • David J. Sanz
    • 1
  • Jennifer A. Hollywood
    • 1
    • 2
  1. 1.University College CorkCorkIreland
  2. 2.The University of AucklandAucklandNew Zealand

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