For the first time in Europe hundreds of rare disease (RD) experts team up to actively
share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported
EU flagship project bringing together >300 clinicians, scientists, and patient representatives
of 51 sites from 15 countries. Solve-RD is built upon a core group of four European
Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually
see more than 270,000 RD patients with respective pathologies. The main ambition is
to solve unsolved rare diseases for which a molecular cause is not yet known. This
is achieved through an innovative clinical research environment that introduces novel
ways to organise expertise and data. Two major approaches are being pursued (i) massive
data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined
-omics approaches. The minimum requirement to be eligible for the analysis activities
is an inconclusive exome that can be shared with controlled access. The first preliminary
data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets.
This unprecedented degree of collaboration focused on sharing of data and expertise
shall identify many new disease genes and enable diagnosis of many so far undiagnosed
patients from all over Europe.
