Talking Glossary of Genetic Terms

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Francis S. Collins, M.D., Ph.D. defines Cystic Fibrosis

Cystic Fibrosis

SIS tik fi BRO sis

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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