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Clinical and translational science
Oct, 2015;8 (5): 606-10.

Precision Genomic Medicine in Cystic Fibrosis.

Eugene H Chang, Joseph Zabner
Author Information
  1. Eugene H Chang: Department of Otolaryngology-Head and Neck Surgery, The University of Arizona College of Medicine, Tucson, Arizona, USA.
  2. Joseph Zabner: Department of Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
PMID: 26073768 DOI: 10.1111/cts.12292

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

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Grants

  1. K08 DE021413/NIDCR NIH HHS
  2. P30 DK054759/NIDDK NIH HHS
  3. 1K08DE021413-01A1/NIDCR NIH HHS

MeSH Term

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

Chemicals

CFTR protein, human
Genetic Markers
Cystic Fibrosis Transmembrane Conductance Regulator
Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review
Article has an altmetric score of 1

Word Cloud

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