Aug 5, 2016

Pharmacogenetics of cystic fibrosis treatment

Suzanne C Carter, Edward F McKone


Cystic fibrosis (CF) is genetic autosomal recessive disease caused by reduced or absent function of CFTR protein. Treatments for patients with CF have primarily focused on the downstream end-organ consequences of defective CFTR. Since the discovery of the CFTR gene that causes CF in 1989 there have been tremendous advances in our understanding of the genetics and pathophysiology of CF. This has recently led to the development of new CFTR mutation-specific targeted therapies for select patients with CF. This review will discuss the characteristics of the CFTR gene, the CFTR mutations that cause CF and the new mutation specific pharmacological treatments including gene therapy that are contributing to the dawning of a new era in cystic fibrosis care.

  • References62
  • Citations3


  • References62
  • Citations3


Mentioned in this Paper

Cratoxylum formosum
CFTR protein, human
Cystic Fibrosis
Parkinsonian Disorders
De Novo Mutation
CFTR gene

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