Be bold, be flexible over drug trials for rare diseases

摘要

It is a landmark moment: 22 years after the cystic f ibrosis gene was discovered, some patients are about to receive a drug called Kalydeco to treat the defect that causes their lungs to clog up with sticky mucus, But will approving the drug pave the way for all manner of Pharmaceuticals to treat rare genetic disorders? Before that can happen regulators may have to let patients take risks that many say they are happy to accept. If the only obstacles were scientific, it would be all systems go. In recent years, fast and cheap DNA sequencing has transformed geneticists'ability to find mutations that cause disease. Methods for screening thousands of molecules for promising biological effects have also speeded up drug discovery.