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 is difficult to perform, however, owing to a variety of problems associated with patient recruitment and classification, and the biases that are frequently associated with the study of rare diseases. Despite its many limitations, establishment of disease registries may facilitate this research, as evidenced by the depth and breadth of findings recently obtained in inherited epidermolysis bullosa via such a mechanism.
Fine
J D
JD
School of Medicine, University of North Carolina at Chapel Hill, USA.
D004812:Epidemiologic Methods; D004820:Epidermolysis Bullosa / Q000453:epidemiology*; D006801:Humans; D012042:Registries