title: Novel therapeutic approaches for cystic fibrosis.
abstract: Cystic fibrosis (CF) is the most common lethal monogenic disorder. Life expectancy of CF patients is rising towards a mean of 40 years with advances in all aspects of therapy apart from treating the basic molecular defect. In the twenty three years since the discovery of the gene that causes cystic fibrosis, our knowledge of how mutations in this gene cause the varied pathophysiological manifestations of this disease has increased substantially. This knowledge has led to the possibility of new therapeutic approaches aimed at the basic defect. Apart from gene therapy, several novel compounds have recently been discovered using high-throughput screening which appear promising enough to develop into effective drugs to cure the basic defect. This article will summarize our current knowledge of mutation specific therapy and will focus on orally bioavailable potentiators and correctors and suppressors of premature termination codons. Further development of these drugs will enable treatment of the basic defect in diseases like CF and open the door for treatment of disease according to gene sequencing -- true personalized medicine.
authors: Pediatric Gastroenterology Unit, Division of Pediatrics, Hadassah Hospitals, Hebrew University, Jerusalem 91240, Israel. michaelwil@hadassah.org.il
authors: Michael
authors: M
authors: Wilschanski
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D006801:Humans
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator