title: Cystic Fibrosis and Its Management Through Established and Emerging Therapies.
abstract: Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disorder in the Caucasian population and occurs in many other ethnicities worldwide. The daily treatment burden is substantial for CF patients even when they are well, with numerous pharmacologic and physical therapies targeting lung disease requiring the greatest time commitment. CF treatments continue to advance with greater understanding of factors influencing long-term morbidity and mortality. In recent years, in-depth understanding of genetic and protein structure-function relationships has led to the introduction of targeted therapies for patients with specific CF genotypes. With these advances, CF has become a model of personalized or precision medicine. The near future will see greater access to targeted therapies for most patients carrying common mutations, which will mandate individualized bench-to-bedside methodologies for those with rare genotypes.
authors.affiliation: Department of Pediatrics, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio 45229; email: david.spielberg@cchmc.org , john.clancy@cchmc.org.
authors.forename: David R
authors.initials: DR
authors.lastname: Spielberg
authors.affiliation: Department of Pediatrics, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio 45229; email: david.spielberg@cchmc.org , john.clancy@cchmc.org.
authors.forename: John P
authors.initials: JP
authors.lastname: Clancy
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics* / Q000628:therapy; D005838:Genotype; D006801:Humans; D058990:Molecular Targeted Therapy; D009154:Mutation; D057285:Precision Medicine; D013329:Structure-Activity Relationship
keywords: CF therapy; CFTR; CFTR modulator; cystic fibrosis; lung function; personalized medicine