Researchers from UdL and IRBLleida create a web application to diagnose rare diseases

The 'Rare Disease Discovery' tool is a prototype that automatically orders rare diseases most likely based on patients' symptoms

Lleida, January 17th, 2017 Researchers at the University of Lleida (UdL) and the Biomedical Research Institute of Lleida Dr. Pifarré Foundation (IRBLleida) have developed a free web application that helps in the initial diagnosis of more than 4,000 rare diseases, such as beta-thalassemia; Turner's syndromes, Goldblatt, Williams; Canavan's disease, Fabry's disease, etc. To create the 'Rare Disease Discovery' tool, researchers have used an open data set that relates rare diseases and symptoms. The software allows the medical staff to automatically obtain a list of diseases, ordered from more to less score, after having identified and selected the symptoms presented by the patients. To verify its usefulness, the prototype has been tested retrospectively with a group of 187 people diagnosed with a rare disease. The results show that it has a diagnostic accuracy of 80%, as recorded in the article recently published by the researchers in the journal Peer J.