Some answers from an expert on cystic fibrosis
-
Courtesy of Seattle Children's Hospital
Dr. Bonnie Ramsey, a cystic fibrosis researcher at Seattle Children's Research Institute, works with Oliver McGarey, an 18-year-old patient from Seattle.
A graduate of Stanford University and Harvard Medical School, she first began her research into the disease when she came to Seattle in 1978.
In 2005, the Bonnie W. Ramsey endowed professorship in cystic fibrosis was created in her honor at the University of Washington.
Q: Why did you choose to specialize in the research of cystic fibrosis?
A: I came out here to be a cancer specialist. Then … they needed somebody to take over the cystic fibrosis program. I said I'll be glad to do that at least short term. But at that time there was no hope in the illness. We didn't know what caused the illness. The lifespan was to the early teens and the quality of life was different than today. They had to spend the majority of their lives in the hospital.
Q: How did research into the disease progress?
A: In the '80s, they found the protein, what the mutations were, what the mutations did. … Then when you get an interesting scientific story you have people flocking to the area. They can get funding and get answers. Now the cystic fibrosis (research) community has moved into small molecules.
At the same time we've done a huge amount in treating of the secondary complications, lung infections and mucus buildup.
Q: What eventually causes patients to die of cystic fibrosis?
A: They have these recurrent lung infections. It's almost impossible to clear them.
Over time each infection slowly takes a toll. It cause scar tissue in the airway of the lung and scar tissue over time (results) in lung failure.
In this stage … (people) die of lung failure or get lung transplants.
I don't think lung transplants are what we want as a good, long-term solution.
Q: What cystic fibrosis research is currently under way at Seattle Children's Research Institute?
A: Children's is involved in several clinical trials to develop new therapies to treat cystic fibrosis, in particular to treat related lung infections.
Q: What new treatments are now being developed, either in Seattle or elsewhere?
A: There are several really exciting new treatments in development. For the first time we have treatments which may correct the abnormal protein in cystic fibrosis called "CFTR."
Story tags »
• Diseases • Medical research • Medicines • Preventative medicine • ResearchFacts about cystic fibrosis
Cystic fibrosis is caused by a defective gene that triggers the body to produce unusually thick, sticky mucus that clogs the lungs. It leads to life-threatening lung infections and prevents natural enzymes from helping the body break down and absorb food.
It affects about 30,000 children and adults in the U.S. and about 650 children and young adults in Washington.
Advances in research and medical treatments have extended the lives of children and adults with cystic fibrosis. Many people with the disease can now expect to live into their 30s and beyond.
One out of 28 people carries the gene for cystic fibrosis; about 1,000 new cases of cystic fibrosis are diagnosed each year.
More than 70 percent of patients are diagnosed by age 2.
More than 40 percent of cystic fibrosis patients are ages 18 and older.
Source: Cystic Fibrosis Foundation
(