Solve-RD is a Horizon2020-funded project, dedicated to ‘solve the unsolved rare diseases’.
European Reference Networks (ERNs) are the European clinical expertise centers for rare diseases form the clinical core of Solve-RD by contributing their unsolved RD cohorts, diagnostic research expertise and infrastructure. Each ERN established their own Data Interpretation Task Force (DITF) within Solve-RD comprising expert clinicians and geneticists from the respective disease group.
ERN-EpiCARE has recently joined the project as an associated ERN and collaborates with regard to the re-analysis of unsolved exomes and genomes of patients with rare developmental and epileptic encephalopathy (DEE) or other rare epilepsy syndromes.
The Solve-RD approach to collect and jointly re-analyse large numbers of unsolved WES/WGS from RD patients already proved to be successful, increased the diagnostic yield and led to the discovery of new disease genes.