Cystic fibrosis is a genetic disease where the child receives a mutant gene from each parent. Only about half of all cystic fibrosis patients live to 31 years of age. Johns Hopkins Hospital, Eastern Virginia Medical School, and the Children's Hospital of The King's Daughters have joined forces to develop a cure for cystic fibrosis. I'm Dr. William Kearns, a geneticist, with a joint faculty appointment at the Johns Hopkins University School of Medicine and Eastern Virginia Medical School.
Cystic fibrosis has a variety of symptoms.
The basic problem for cystic fibrosis patients is that affected cells fail to properly transport sodium and chloride, or salt, within the specialized cells lining organs such as the lung and pancreas. The disease causes the body to produce an abnormally thick, sticky mucus. This abnormal mucus clogs the lungs and leads to fatal infections. This thick mucus also obstructs the pancreas, preventing enzymes from reaching the intestines to digest food. Since the defective gene was discovered in 1989, the pace of the research has greatly accelerated.