All Cystic Fibrosis patients are defective in a gene called CFTR, which instructs the cell to make a protein that moves ordinary chlorine ions into and out of cells. The Cystic Fibrosis Mutation Database (CFMDB) is an internationally renowned reference for CFTR mutations and continuously used and contributed to by researchers throughout the world. A high percentage of cystic fibrosis (CF) articles published since 1989 have a reference linking to the database. The project has recently joined with the Clinical and Functional TRanslation of CFTR (CFTR2), an international initiative supported by the US Cystic Fibrosis Foundation functional and clinical information on CFTR mutations resulting in a new version of the CFMDB called CFTR1. The CFTR2 database is a phenotype-oriented database housed at Johns Hopkins University. Communiction between the two databases, CFTR1 and CFTR2, will be established. The overall goal of the project is to standardize mutation nomenclature for the CFTR gene and to co-ordinate the effort to unify mutation referencing across the CF community including: centres, registries, and genetic testing laboratories. The curators of CFTR1 verify the location and nomenclature for all existing and newly acquired mutation information and collect relevant clinical data. A preliminary assessment of predicted effect on CFTR function is performed and links are provided to the CFTR2 database that contain clinical and functional data on mutations found in patients with CF and CF-related diseases. The purpose of the Consortium is to increase and facilitate communications among CF researchers who are working on mutant identification in the CFTR gene. The information is not only important for carrier testing, but also for understanding the function of the CF gene product and for correlating clinical symptoms and mutations. There are currently 130 groups of CF laboratories from over 30 countries in the Consortium.
