Within the Solve-RD project, over 300 experts from different European countries and Canada re-analysed genome data from undiagnosed 6447 patients. They were able to diagnose 506 patients and their families. For 15% of the patients, there are leads for actionability, in some including treatment; in other cases, the diagnosis provides clarity for the patients and their families.
Find the press release here.
Learn more in the paper: Laurie, S., Steyaert, W., de Boer, E. et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med (2025). https://www.nature.com/articles/s41591-024-03420-w