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Medical Minute: Cystic Fibrosis

Cystic fibrosis is a genetic disease that affects 30,000 children and adults in the U.S.

In 1989, scientists discovered the gene responsible for cystic fibrosis. Now new research finds a way to correct the defect.

Eighteen-year-old Amy Crews tries to live a normal life.

"I don't want people to feel sorry for me. I don't want to be pitied,” Crews says.

Amy was diagnosed with cystic fibrosis when she was two months old. She's had a number of surgeries including having one lung removed. Recently, she decided to be part of research.

"I hope that the research goes as they hope that it goes and that they can use this new medicine to help other people and help me,” comments Crews.

Scientist David Dedwell says the research involves repairing a gene. All genes start and stop creating a full length protein. In ten percent of c-f patients, there is a premature stop and the protein is not made properly.

"What we're doing is we're tricking the machinery into bypassing that first stop, the premature stop, and reading all the way to the end so that you make a full length, functional protein,” says Dr. Bedwell.

Research shows the antibiotic, gentimicin can correct the problem.

Amy's gene was changed while on the medication. The downside, according to her pediatrician J.P. Clancy, is that gentimicin has severe side effects, and can't be used long term.

"It isn't a permanent fix. It can only work for the period of time that the medication is used,” Clancy explains.

But researchers say this discovery is a step in the right direction.

Valerie Eubanks
Research Coordinator
University of Alabama at Birmingham
620 ACC
16000 7th Ave. South
Birmingham, AL 35233
205-939-5743
vaeubanks@peds.uab.edu

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