Cystic fibrosis (CF) is an inherited chronic disease caused by defects in a gene called cystic fibrosis transmembrane conductance regulator, or CFTR. The result is that the associated protein is either disabled or absent altogether, disrupting the transport of salts into and out of cells, which leads to the characteristic thick mucus that blocks ducts and tubes in the body, affecting many organs. For instance, it blocks airways, causing chronic cough and lung infections; it blocks the pancreas so it can't deliver enzymes to help digest food in the intestines; and it also prevents food being absorbed in the intestines.
CF affects more than 70,000 people worldwide, most of whom are children and young adults. Around 1 in 25 people of European descent carry the CF gene, and if both parents carry the gene, the chances of a child being born with CF is 1 in 4. There is no cure for the disease and most people with it die in their 20s or 30s from lung failure.
The CFTR gene and its associated protein were only discovered 40 years ago, but early detection and improved therapies has led to vastly improved survival for patients since that time.
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