A 20-Year Journey of Tracing the Development of Web Catalogues for Rare Diseases.

Rare diseases are affecting over 350 million individuals on a worldwide scale. However, studying such diseases is challenging due to the lack of individuals compliant with the study protocols. This unavailability of information raises some challenges when defining the best treatments or diagnosing patients in the early stages. Multiple organizations invested in sharing data and resources without violating patient privacy, which resulted in several platforms focused on aggregating information. Despite the benefits of these solutions, the evolution of data regulations leads to new challenges that may not be fully addressed in such platforms. Therefore, in this paper, we proposed an enhanced version of one of the identified open-source platforms for this purpose. With this work, we were able to propose different strategies for aggregating and sharing information about rare diseases, as well as to analyse the technological evolution when producing tools for biomedical data sharing, namely by analysing the evolution of the selected tool over the last two decades.