- Michael Wilschanski: Pediatric Gastroenterology Unit, Division of Pediatrics, Hadassah Hospitals, Hebrew University, Jerusalem, Israel 91240. michaelwil@hadassah.org.il
In the 21 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. This article summarizes our current knowledge of mutation-specific therapy, and focuses on orally bioavailable potentiators and correctors and suppressors of premature termination codons, including preclinical model systems and clinical trials in cystic fibrosis.