I just found an interesting article at the PHG Foundation about a new potential treatment for cystic fibrosis, a genetic condition affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines. It is caused by a mutation in the CFTR gene. The product of that gene is a a chloride ion channel that plays role in creating digestive juices and mucus. If there is no normal copy of the gene, the person will be affected by CF.
The new drug VX-770 was developed by the Cystic Fibrosis Foundation in collaboration with Vertex Pharmaceuticals; it targets the defective CFTR protein to improve chloride transport. The Cystic Fibrosis Trust supports a group at the University of Bristol in investigating how new drugs restore function to defective CFTR proteins; group leader Dr David Sheppard reported results at the BA Festival of Science indicating that the new drug could cause a near 50% reduction in salt levels in sweat and a 10% improvement in lung function in cystic fibrosis patients. He said: “The early results with VX-770 suggest that drug therapies which target defects at the root of the disease have the potential to improve greatly the quality of life of CF patients”
Here is a video describing the symptoms: