Rare or orphan diseases affect only a small percentage of the population and often lack effective treatments. While rare individually, in total, more than 350 million people worldwide live with rare diseases. Many of these are very hard to diagnose, let alone cure, and the rarity of patients challenges the development of novel treatments.

To make the development of drugs for rare diseases more efficient and successful, artificial intelligence (AI) could be an important ally not only for drug makers but also for patients.