New Website Offers Insight on Cystic Fibrosis Gene Mutations

CFTR2.orgSource: Cystic Fibrosis Foundation

A major international research effort has led to a new online resource — — that provides information about specific cystic fibrosis gene mutations to people with CF and their families, researchers, health professionals and the general public.

The project is a collaboration between the Cystic Fibrosis Foundation; Johns Hopkins University in Baltimore; the Hospital for Sick Children in Toronto; and the Cystic Fibrosis Centre in Verona, Italy.

CFTR2 aims to help determine the relationships between specific mutations and symptoms of CF. This knowledge could help advance CF care and the development of potential new treatments.

More than 1,800 mutations in the CF gene have been identified since the gene was discovered in 1989. Some CF mutations, such as Delta F508, are very common, while others are found in only a few people. Different CF mutations are associated with varying symptoms of the disease, and some mutations in the CF gene do not cause the symptoms of the disease.

The CFTR2 website is not a tool to diagnose CF or predict health outcomes in an individual with a specific mutation. However, people with CF who know which mutations they have may learn more about how others with the same mutations have been affected by the disease.

The CFTR2 website uses a database that contains information on the mutations and symptoms of nearly 40,000 people with CF, contributed by patient registries and care centers around the world. Patient names are not included in the database and no information can be traced back to any individual.

CFTR2 currently provides information on the 160 most common CF mutations. For each mutation included, users can search for information such as lung function and sweat chloride levels from people with CF in the database who have that mutation.

In the future, as new potential therapies targeting specific CF mutations are developed and become available, the CFTR2 website could help doctors determine the best treatment for a person living with CF.

Visit the website at