RareSim

Abraham Bernstein Oana Inel Selene Baez Santamaria Pascal Severin Andermatt

RareSim is an innovative research project focused on improving the diagnosis and management of rare diseases with the help of advanced AI technologies. In Switzerland alone, over 7,000 known rare diseases affect around 500,000 people, making timely and accurate diagnosis a major challenge for healthcare professionals.

RareSim uses AI algorithms to help doctors identify rare diseases more effectively. By analyzing electronic health records (EHRs) from the University Children’s Hospital (KISPI) and the University Hospital Zurich (USZ), the project aims to develop smart tools that classify patients using ORPHA codes —an international standard for rare disease coding. This system helps doctors find similar patient cases, improving diagnostic accuracy and supporting better treatment decisions.

A key feature of RareSim is its human-in-the-loop approach, which means it actively involves clinicians in the AI learning process. This collaboration ensures the system continuously improves, becoming more reliable and relevant in real-world clinical settings.

The project will also create practical tools, like an easy-to-use interface for comparing patient data. This will help doctors better understand rare diseases and discover new insights in their clinical work.