Rare Disease Discovery: An Optimized Disease Ranking System

The initial diagnosis of rare diseases is difficult because they are infrequent and doctors do not often see or recognize their symptoms. Developing tools to assist in this diagnosis would provide a way to facilitate medical practice in this area. The broader goal of this project is to develop such a tool, which we name rare disease discovery ( http://disease-discovery.udl.cat ). This tool is designed to identify rare diseases on the basis of a patient's symptoms. To create it, several software entities were designed and integrated. First, a database of symptoms associated with every human rare disease known was designed and implemented. This database was derived from information available from Orphanet. Orphanet provides gold-standard data regarding rare diseases in the world. Second, a user-friendly website was also designed, implemented, and connected to the database. This website connects the users, the database, and the third software entity, a disease prediction engine. Overall, we create an accurate, efficient, and user-friendly diagnosis tool that can be quickly learnt and handled by medical doctors for the prediction of rare diseases.