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.
Sangiuolo, F., D'Apice, M.r., Bruscia, E., Lucidi, V., & Novelli, G. (2002). Towards the pharmacogenomics of cystic fibrosis. PHARMACOGENOMICS, 3(1), 75-87 [10.1517/14622416.3.1.75].
Tipologia: | Articolo su rivista | |
Citazione: | Sangiuolo, F., D'Apice, M.r., Bruscia, E., Lucidi, V., & Novelli, G. (2002). Towards the pharmacogenomics of cystic fibrosis. PHARMACOGENOMICS, 3(1), 75-87 [10.1517/14622416.3.1.75]. | |
IF: | Con Impact Factor ISI | |
Lingua: | English | |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica | |
Revisione (peer review): | Esperti anonimi | |
Tipo: | Articolo | |
Rilevanza: | Rilevanza internazionale | |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1517/14622416.3.1.75 | |
Stato di pubblicazione: | Pubblicato | |
Data di pubblicazione: | 2002 | |
Titolo: | Towards the pharmacogenomics of cystic fibrosis | |
Autori: | ||
Autori: | Sangiuolo, F; D'Apice, Mr; Bruscia, E; Lucidi, V; Novelli, G | |
Appare nelle tipologie: | 01 - Articolo su rivista |