Precision Genomic Medicine in Cystic Fibrosis

Clin Transl Sci. 2015 Oct;8(5):606-10. doi: 10.1111/cts.12292. Epub 2015 Jun 15.

Abstract

The successful application of precision genomic medicine requires an understanding of how a person's genome can influence his or her disease phenotype and how medical therapies can provide personalized therapy to one's genotype. In this review, we highlight advances in precision genomic medicine in cystic fibrosis (CF), a classic autosomal recessive genetic disorder. We discuss genotype-phenotype correlations in CF, genetic and environmental modifiers of disease, and pharmacogenetic therapies that target specific genetic mutations thereby addressing the primary defect of cystic fibrosis.

Keywords: epithelium; genes; genetics.

Publication types

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

MeSH terms

  • Animals
  • Cystic Fibrosis / diagnosis
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / physiopathology
  • Cystic Fibrosis / therapy
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Disease Progression
  • Gene-Environment Interaction
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Genome, Human*
  • Genomics* / methods
  • Humans
  • Mutation*
  • Phenotype
  • Precision Medicine*
  • Predictive Value of Tests
  • Prognosis
  • Risk Factors

Substances

  • CFTR protein, human
  • Genetic Markers
  • Cystic Fibrosis Transmembrane Conductance Regulator