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Cystic Fibrosis (CF)

Cystic Fibrosis (CF) mainly affects people's lungs and digestive systems. A thick mucus prevents normal breathing and digestion, leading to infections and loss of the lungs' ability to function. Digestive enzyme supplements and antibiotics may help, and periodically the airway to the lungs may need clearing. Even so, half of the people with CF die by the age of 30. CF affects one in 2000-3000 Caucasian babies.

Letter to Dr. Collins

  In 1989, the gene causing Cystic Fibrosis (CF) was discovered. By 1993, gene therapy trials to treat people with CF began. Today, researchers struggle to develop a safe, effective gene therapy, as well as other, more traditional therapies. Below is a timeline showing how fast genetic research can sometimes lead to new attempts to treat a disease.
Letter to Dr. Collins. Courtesy of the
National Human Genome Research Institute

 

Below is a Timeline Telling the Story of Developing a Gene Therapy for the Treatment of Cystic Fibrosis:
     
1989   CFTR color graphic  - Credit line: Celia Hooper, Journal of NIH Research, Nov-Dec. 1989
Celia Hooper, Journal of NIH Research, Nov-Dec. 1989
  Dr. Francis Collins' team at the University of Michigan, and Drs. Lap-Chi Tsui and John Riordan's team at the University of Toronto locate the CF gene. The protein made from the instructions encoded by the gene is called CFTR (cystic fibrosis transmembrane-conductance regulator).
   
1990   Dr. Michael Welsh's team at the University of Iowa demonstrated what the protein called CFTR does in the human body. They added normal CFTR to CF cells which had been cultured in the laboratory. When normal CFTR was added, the chloride (salt) transport between the cell membranes began to function correctly.
   
1993   Photo of Dr. Crystal's gene therapy trial - Courtesy of the National Heart, Lung, and Blood Institute.    
Dr. Crystal's gene therapy trial. Courtesy of the National Heart, Lung, and Blood Institute
 
    When the safety and effectiveness of gene therapy had been proven as well as it could be in the laboratory and during studies in animals, the first human gene therapy trials for CF were conducted. Dr. Ronald Crystal, then of the National Heart, Lung, and Blood Institute, used copies of the normal CF gene to treat the lining of the nose and the lungs of people with CF (in this picture Dr. Crystal is third from the right). The trial tested how safe the procedure was for humans. Some people experienced inflammation in their lungs. Gene therapy trials to treat people with CF continue to take place in several places.
   
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Revolution in Progress: Human Genetics and Medical Research/
National Institutes of Health