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Cystic fibrosis: exploiting its genetic basis in the hunt for new therapies Kreindler JLPharmacol Ther 2010[Feb]; 125 (2): 219-29Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel expressed in epithelial cells throughout the body. In the lungs, absence or dysfunction of CFTR results in altered epithelial salt and water transport eventuating in impaired mucociliary clearance, chronic infection and inflammation, and tissue damage. CF lung disease is the major cause of morbidity and mortality in CF despite the many therapies aimed at reducing it. However, recent technological advances combined with two decades of research driven by the discovery of the CFTR gene have resulted in the development and clinical testing of novel therapies aimed at the principal underlying defect in CF, thereby ushering in a new age of therapy for CF.|Anti-Infective Agents/therapeutic use[MESH]|Anti-Inflammatory Agents/therapeutic use[MESH]|Cystic Fibrosis Transmembrane Conductance Regulator/*genetics[MESH]|Cystic Fibrosis/*genetics/*therapy[MESH]|Diet[MESH]|Genetic Therapy/methods[MESH]|Humans[MESH]|Mucociliary Clearance[MESH]|Mutation[MESH] |
