Emily Schaller suffers from cystic fibrosis. New treatments that target the genetic basis of her disease allow her to live an active, healthy life.
The promise of genetic medicine is beginning to be fulfilled, but it's been a long, hard slog.
Take the story of Kalydeco. It's designed to treat people with a lung disease called cystic fibrosis. While not quite a cure, the drug is extremely effective for some CF patients.
But the success of Kalydeco has been more than two decades in the making.
A good starting point for the story is Aug. 24, 1989. That's the day scientists from the U.S. and Canada announced the discovery of the gene associated with the disease. It was the early days of gene hunting, and the CF gene was a big prize.
CF is the most common genetic disease in Caucasians. When people inherit a damaged form of the CF gene, a critical protein inside cells doesn't work properly. As a result, sticky mucus builds up in a patient's lungs, causing infections and making it hard to breathe.
The announcement was supposed to be made in conjunction with three papers in the Sept. 8 issue of Science, but a reporter for Reuters got hold of the story early. Science took the unusual step of allowing the scientists to speak to the media before publication.
At the time, scientists predicted that a genetic test for CF was just around the corner. But they also thought a drug to treat the disease was in reach.
The first prediction turned out to be right. "But it wasn't until 20 years later that we were able to find drugs that directly target the underlying cause of cystic fibrosis," says Fred Van Goor, who led the team at what is now Vertex Pharmaceuticals that developed Kalydeco. "So it was a long time between the discovery of the gene and the discovery of Kalyedco."
It took awhile to find a drug that would help restore the function of the protein the CF gene makes. "We tested over 600,000 chemicals in cells with the defective protein that causes cystic fibrosis," says Van Goor.
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Drug Fulfills Promise Of Research Into Cystic Fibrosis Gene