Drug fulfills promise of research into Cystic Fibrosis gene

Posted: January 3, 2013 at 12:41 am

Tim Boyle/Getty Images

Seven-year-old Gregory White, who suffers from cystic fibrosis, sits in a chair awaiting treatment on April 17, 2002 at the Loyola Oakbrook Medical Center in Oakbrook Terrace, IL.

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."

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Drug fulfills promise of research into Cystic Fibrosis gene

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