title: Cystic fibrosis genetics: from molecular understanding to clinical application.
abstract: The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 733 North Broadway, MRB 559, Baltimore, Maryland 21205, USA.
authors.forename: Garry R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D015316:Genetic Therapy / Q000379:methods; D014644:Genetic Variation; D005826:Genetics, Medical / Q000379:methods* / Q000639:trends; D006801:Humans; D008954:Models, Biological; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator