Cystic fibrosis is a genetic disease that affects 30,000 children and adults in the United States. In 1981, scientists discovered the gene responsible for CF. Now, new research finds a way to correct the defect. Here is why this research is a big step forward.
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," said Crews.
"We don't focus on the fact that she's got a disease. We focus on the life that she's living," said Amy's stepfather Kerry Lambert.
Crews 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," Crews said.
Molecular biologist David Bedwell, Ph.D., says the research involves repairing a gene. All genes start and stop creating a full-length protein. In 10 percent of CF 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," said Bedwell, of the University of Alabama at Birmingham.
Research shows the antibiotic gentamicin can correct the problem.
"This is one of the first times we've actually altered the cellular machinery to do something we wanted it to do," said Bedwell.
Crews' gene was changed while on the medication.
The downside, according to her pediatrician J.P. Clancy, M.D., is gentamicin 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," said Dr. Clancy.
But researchers say this discovery is a step in the right direction.
The treatment can be repeated, but side effects of the drug may include kidney failure and hearing loss. Animal studies are underway to find a way to deliver this drug without causing the side effects. Tests on other similar drugs are also underway. Researchers say it will take time to see if the disease progression is slowed in patients.
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