Scientists have provided a diagnosis for more than 500 European patients who did not know their condition. This work, which was performed by the Solving the Unsolved Rare Diseases (Solve-RD) consortium and was highly collaborative, has been reported in Nature Medicine.

In the European Union, a rare disorder is defined as one that occurs in fewer than five of 10,000 people. Genetic mutations are the cause of most of these rare disorders, but genetic sequencing cannot always provide an easy answer.