This web server developed by the Systems Biology and Statistical Methods group seeks to address the need to decrease the time between initial and definitive diagnosis of patients with rare diseases by facilitating initial triage and reducing the burden of the entire diagnostic process. The algorithm works by giving a ranking of rare diseases from most to least likely based on the list of symptoms displayed by the patient. Because of its configuration, this server is easily deployable in any center that has access to a computer.
In addition, work is recently underway to add the genetics variant to include both common and rare genetic conditions, which further enhances the functionality of the tool.
TRL: TRL 5
Protection: No protection
Objective: Search for funding, business collaboration to bring the app to the market