Researchers have discovered and isolated the gene that causes cystic fibrosis when it is defective, a major step that could help in developing treatments for the fatal disease, a scientist said today.
The discovery will “open up the door to more focused experiments” to find treatments that strike at the basic cause of the disease, said Lap-Chee Tsui of the Research Institute at the Hospital for Sick Children.
“This is one of the most significant discoveries in the history of human genetics,” said Dr. Ronald Worton, the hospital’s chief geneticist.
Half of cystic fibrosis patients die before reaching their mid-20s, mostly from respiratory complications. Treatment now is limited to fighting the effects of the disease rather than its cause.