ATTENTION CFMDB USERS

The Cystic Fibrosis Mutation Database (CFMDB) is joining a new project called CFTR2 - The Clinical and Functional TRanslation of CFTR. This is an international initiative led by a team of researchers and clinicians and supported by the US Cystic Fibrosis Foundation that seeks to provide complete, advanced and expert-reviewed functional and clinical information on CFTR mutations.

Phase I involves four major tasks:

1. Revising CFMDB at the Hospital for Sick Children in Toronto to a new version called CFTR1
2. Standardizing mutation nomenclature for the CFTR gene and coordinating the effort to unify the mutation referencing across the CF community (CF centers, CF registries, genetic testing laboratories etc.)
3. Creation of a new phenotype-oriented database called CFTR2 (to be housed at Johns Hopkins University)
4. Establishing communication between the CFTR1 and CFTR2 databases

As part of Phase I of the project, CFTR1 is actively seeking the help of academic and commercial testing laboratories worldwide, which provide complete CFTR gene sequencing or scanning, to submit all novel mutation information from the entire clinical spectrum to this new non-profit, public CFTR2 database initiative. The curators of CFTR1 will verify the location and nomenclature for all existing and newly acquired mutation information, and collect clinical data when available. A preliminary assessment of predicted effect on CFTR function will be performed, and links will be provided to the CFTR2 database that will contain clinical and functional data on mutations found in patients with CF and CF-related diseases.

Worldwide participation in this project is critical for the creation of a useful and complete clinical resource

All institutions and key personnel collaborating in this project will receive proper recognition on the project website. To view the current list of institutions that have already agreed to participate in this important initiative please see here.

In the long-term, the completion of this project is expected to have important implications for diagnosis, prognosis, and therapy selection for patients and families carrying rare CFTR mutations. As such, the overall goal of this project is to assess the disease liability of these mutations towards causing CF and CFTR related diseases. As CFTR genes are sequenced in more individuals, this online database will be an invaluable resource to patients, families, genetic counselors, researchers and the medical community.

If you have any questions regarding this project or if your group has information that you would like to submit to this project, please contact cftr.admin.