Using Patient Registries to Identify Triggers of Rare Diseases

Mapping the distribution of patients and analyzing disease clusters is an effective method in epidemiology, where the non-random aggregation of patients is carefully investigated. This can aid in the search for clues to the etiology of diseases, particularly the rare ones. Indeed, with the increased incidence of rare diseases in certain populations and/or geographic areas and with proper analysis of common exposures, it is possible to identify the likely promoters/triggers of these diseases at a given time. In this chapter, we will highlight the appropriate methodology and demonstrate several examples of cluster analyses that lead to the recognition of environmental, occupational and communicable preventable triggers of several rare diseases.