EPIDERMOLYSIS-BULLOSA - APPLICATION OF EPIDEMIOLOGIC PRINCIPLES TO THE STUDY OF A GROUP OF RARE DISEASES VIA A DISEASE REGISTRY

The study of rare diseases may provide unique insights into new mechanisms of disease. Such research, however, is difficult to perform, because of a variety of problems associated with patient recruitment and classification, and the biases that are frequently associated with the study of rare disease. Despite many limitations, establishment of disease registries may facilitate this research, as evidenced by the depth and breadth of findings recently obtained via such a mechanism in inherited epidermolysis bullosa.