Background of Cystic Fibrosis Consortium

In 1989, following discovery of the CFTR gene, a consortium of genetic researchers was formed in order to catalogue the large, and growing, number of disease-causing mutations. The purpose of the Consortium was to increase and facilitate communications among CF researchers who were working on mutant identification in the CFTR gene.

The Consortium was important for several obvious reasons. The first was to avoid unnecessary overlapping effort and to speed up the screening process; it was in everybody's interest to have a format for reporting data and confirming observations. Second, accurate population figures could be derived quickly once a mutation was identified. Further, the information was seen as not only important for carrier testing, but also for understanding the function of the CF gene product, and for facilitating studies to correlate clinical symptoms and mutations.

The Consortium quickly grew to 130 groups of CF laboratories (from over 30 countries). But the goal of understanding the functional and clinical implications of hundreds of mutations, many extremely rare, became insurmountable. With the link to the new CFTR2 project in 2010, progress toward this goal will be enhanced by the compilation of clinical data from CF patient registries around the world. The information in the Cystic Fibrosis Mutation Database should be used with great discretion in clinical settings and in the interpretation of genotype-phenotype correlation.