For the first time in Europe hundreds of rare disease experts team up to actively share and jointly analyze existing data from unsolved rare disease patients. The Solve-RD project published a series of papers in the European Journal of Human Genetics describing the new approach and the structures established to warrant best exchange of expertise. Involved in the project are data scientists and genomics experts as well as expert clinicians and geneticists from the European Reference Networks (ERNs). In an accompanying paper the first results of the approach to solve rare diseases through programmatic reanalysis of genome-phenome data are described. In addition, four case reports from the ERNs show the advantage of the approach and provide details why the patients have only now received their diagnosis.
A press release has been published by the University Hospital Tübingen in German and in English.
And here is the link to the press release from the Radboud UMC in Dutch.
The editorial accompanying our six paper bundle:
Graessner H, Zurek B, Hoischen A et al. Solving the unsolved rare diseases in Europe. Eur J Hum Genet (2021). https://doi.org/10.1038/s41431-021-00924-8; Link to the editorial.