"Solve-RD - solving the unsolved rare diseases" is a research project funded by the European Commission for five years (2018-2022). It echoes the ambitious goals set out by the International Rare Diseases Research Consortium (IRDiRC) to deliver diagnostic tests for most rare diseases by 2020. The current diagnostic and subsequent therapeutic management of rare diseases is still highly unsatisfactory for a large proportion of rare disease patients – the unsolved RD cases. For these unsolved rare diseases, we are unable to explain the etiology responsible for the disease phenotype, predict the individual disease risk and/or rate of disease progression, and/or quantitate the risk of relatives to develop the same disorder.

Our main ambitions are thus

  • to solve large numbers of rare disease, for which a molecular cause is not known yet by sophisticated combined omics approaches, and
  • to improve diagnostics of rare disease patients through contribution to, participation in and implementation of a “genetic knowledge web” which is based on shared knowledge about genes, genomic variants and phenotypes.

Solve-RD fully integrates with the newly formed European Reference Networks (ERNs) for rare diseases which have begun to operate in 2017. Four ERNs (ERN-RND, -EURO-NMD, -ITHACA, and -GENTURIS) build the core of Solve-RD but we will reach out to patient cohorts across all 24 ERNs as well as the undiagnosed disease programmes from Spain and Italy in order to achieve our aims. To tackle diseases which are still unsolved we have formed a consortium that comprises

  1. Leading clinicians, geneticists and translational researchers of the core ERNs,
  2. RD research and diagnostic infrastructures such as RD-Connect, Orphanet/ORDO, the Human Phenotype Ontology (HPO) and EuroGentest,
  3. Patient organisations such as EURORDIS and Genetic Alliance UK, as well as
  4. Leading experts in the field of -omics technologies, bioinformatics and knowledge management.