title: Precision Genomic Medicine in Cystic Fibrosis.
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.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, The University of Arizona College of Medicine, Tucson, Arizona, USA.
authors.forename: Eugene H
authors.initials: EH
authors.lastname: Chang
authors.affiliation: Department of Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Zabner
mesh_terms: D000818:Animals; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D018450:Disease Progression; D059647:Gene-Environment Interaction; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D006801:Humans; D009154:Mutation; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors
chemical_list: C505032:CFTR protein, human; D005819:Genetic Markers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: epithelium; genes; genetics