Cystic fibrosis is a hereditary disease characterized by faulty digestion, breathing problems, respiratory infections from mucus buildup, and the loss of salt in sweat. The disease is caused by mutations in a single gene and is inherited as an autosomal recessive trait, meaning that an affected individual inherits two mutated copies of the gene. In the past, cystic fibrosis was almost always fatal in childhood. Today, however, patients commonly live to be 30 years or older.
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Cystic fibrosis of the pancreas was the original description of this disease because it affects the pancreas and the lungs, although it's the lungs that are the cause of the most major concerns these days. The pancreas problems, which were the cause of the original label, are actually well treated by enzyme replacement. And we've done much better in the treatment of the disease, so the average survival is now in the mid-30s. But after the gene was discovered in 1989, a gene called CFTR, many people had hopes that that would lead immediately to a cure. That was probably unrealistic. But happily, now some two decades later, there is real promise of drug treatment based upon an understanding of how the gene works, and maybe in the future this will be a disease for the history books.
Francis S. Collins, M.D., Ph.D.
Director, National Institutes of Health; Former Director, National Human Genome Research Institute
Dr. Francis S. Collins, director of the National Institutes of Health, is noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project, a complex multidisciplinary scientific enterprise directed at mapping and sequencing human DNA. Dr. Collins was the director of the National Human Genome Research Institute from 1993 to 2008. His research has led to the identification of genetic variants associated with type 2 diabetes and the genes responsible for cystic fibrosis, neurofibromatosis, Huntington's disease and Hutchinson-Gilford progeria syndrome. In 2007, Dr. Collins received the Presidential Medal of Freedom, the nation's highest civil award, for his revolutionary contributions to genetic research.