Find Information on Specific CF Mutations
Created by an international team of researchers with Cystic Fibrosis Foundation support, CFTR2 is a website that provides information about different mutations in the cystic fibrosis gene. This online resource is designed for people with CF and their families, researchers, health professionals and the general public.
CFTR2, which stands for the Clinical and Functional Translation of CFTR, aims to determine the relationships between specific mutations and symptoms of CF. The website uses a growing database of information on nearly 40,000 people with CF, collected by CF patient registries and care centers around the world.
Scientists have discovered more than 1,700 mutations in the CF gene. Different mutations are associated with varying symptoms of the disease. Some mutations in the CF gene do not cause the symptoms associated with CF.
Using the CFTR2 Website
The CFTR2 website currently describes the characteristics of 160 of the most common CF mutations, representing the mutations of 96 percent of the CF population worldwide. For each mutation in the CFTR2 database, users can search for information such as lung function and sweat chloride levels in people who have that mutation.
The project is a collaboration between the Cystic Fibrosis Foundation; Johns Hopkins University, Baltimore; the Hospital for Sick Children, Toronto; and the Cystic Fibrosis Centre, Verona, Italy.
For more information, watch the webcasts "Orientation to CFTR2 Website: Information About Specific CF Mutations" and "CFTR2: Information about CF Mutations Webcast."
For people with CF who have not yet been tested to determine their CF mutations, or who have been tested previously but still have one or more unknown mutations, the CF Foundation provides the Mutation Analysis Program (MAP), a free and confidential genetic testing program for people with a confirmed diagnosis of CF.