Find Information on Specific CF Mutations
Cystic fibrosis is a
With Cystic Fibrosis Foundation support, an international team of researchers created an online database that provides information about different mutations and symptoms associated with each mutation. This online resource is designed for people with CF and their families, researchers, health professionals, and the general public.
The database can be found on the website CFTR2, which stands for the Clinical and Functional Translation of CFTR. This growing database has information from nearly 90,000 people with CF, collected by CF patient registries and care centers around the world.
Using the CFTR2 Website
The CFTR2 website describes the characteristics of several hundred of the most common CFTR mutations. Users can search by entering one or two mutations.
Because not all changes in the
The search results cannot predict how mutations will affect a particular individual because they do not include information about other factors that might influence the course of someone's disease. Site organizers recommend that users consult their doctor or genetic counselor for additional information about any one person.
The CFTR2 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 webcast "CFTR2: Information About CF Mutations."
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.