title: Towards the pharmacogenomics of cystic fibrosis.
abstract: Cystic fibrosis (CF) is the most common lethal recessive genetic disease affecting children in Europe and the US. CF is a multiorgan disease and may present a variety of clinical symptoms, like chronic obstructive lung disease, exocrine pancreatic insufficiency (PI) and elevated sweat chloride concentration. CF mutations have also been found in other related clinical diseases such as congenital bilateral absence of the vas deferens (CBAVD), disseminated bronchiectasis and chronic pancreatitis. These clinical overlaps pose etiopathogenetic, diagnostic and therapeutic questions. Despite stunning advances in genomic technologies and drug discovery, drug therapy often improves disease symptoms but does not cure the disease. One of the main causes of this failure in CF cure may be attributable to genetic variability and to the scarce knowledge of CF biochemistry. Therefore, knowing the genotype of a patient might help improve drug efficacy, reduce toxicity and suggests innovative genomic-based therapy approaches.
authors.affiliation: Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata, 00133 Roma, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Sangiuolo
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: D'Apice
authors.forename: Emanuela
authors.initials: E
authors.lastname: Bruscia
authors.forename: Vincenzina
authors.initials: V
authors.lastname: Lucidi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D015316:Genetic Therapy; D023281:Genomics; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator