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Details of the Disease

Understanding CF

Cystic fibrosis is a rare, life-shortening genetic disease caused by mutations
of the cystic fibrosis transmembrane conductance regulator – or CFTR – gene.

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CF By The Numbers

Cystic fibrosis is a rare, life-shortening genetic disease caused by mutations of the cystic fibrosis transmembrane conductance regulator – or CFTR – gene. There are around 2000 identified mutations in the gene, 127 of which are currently known to cause CF. Since the discovery of the CFTR gene in 1989, doctors and scientists have learned a lot more about the cause of CF and how the disease affects the body.

Genetics & CF: 127 CFTR mutations are known to cause CF.

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CF Facts & Figures: 75,000 people in North America, Europe & Australia have CF.

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The Biology of CF: CF affects the body in many ways.

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Learn More About CF

You can learn more about the genetics of CF and symptoms of the disease by watching the short videos below and by visiting cfsource.com. CF Source is an educational web site developed by Vertex.

How CFTR Proteins Are Made and What Happens When They Don't Work Right

How Certain CFTR Mutations Affect the Way CFTR Proteins Function

How Certain CFTR Mutations Affect the Quantity of CFTR Proteins at the Cell Surface

What Happens in the Lungs of a Person With CF

What Happens in the Digestive System of a Person With CF

CF Resources

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