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The National epidermolysis Bullosa Registry.

1994; Elsevier BV; Volume: 102; Issue: 6 Linguagem: Inglês

10.1111/1523-1747.ep12388622

1523-1747

Jo‐David Fine, Lorraine Johnson, Chirayath Suchindran,

Autoimmune Bullous Skin Diseases

Since its inception in 1986, the NEBR has proved to be an excellent example of how a relatively small allocation of federal research funds for the development of a registry of cases of a single rare disease can have a major impact on the rapid expansion in the depth of knowledge of not only the disease itself but of a number of associated biologic principles, including keratinization and epithelial cell-extracellular matrix interactions. At present, the NEBR is generating extensive clinical, laboratory, and demographic data, both from cross-sectional and longitudinal perspectives, as well as establishing a centralized cell and tissue bank that will serve the scientific community at large as a valuable resource for future basic research on this oftentimes devastating genetic disease.