Solve-RD is a large five year European research project funded by the EU (2018-2022) under Horizon 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 cases, 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 quantify the risk that relatives will develop the same disorder.

Our main ambition is to solve large numbers of rare diseases for which a molecular cause is not known yet by combined omics approaches, and to improve the diagnosis of rare disease patients through a “genetic knowledge web”.

The consortium is working directly with four European Reference Networks (ERNs) to improve the diagnosis of rare diseases (ERN-RND, EURO-NMD, ITHACA, and GENTURIS), but we will also reach out to patient cohorts across all 24 ERNs as well as the undiagnosed disease programmes from Spain and Italy. To tackle diseases which are still unsolved, the Solve-RD project has 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.

The 4 cohorts we study can be found here.

In addition to the core ERNs collaborating in the Solve-RD, the project is open to contributions by other ERNs which have data sets from unsolved cases from rare disease patients. They should include phenotypic and genetic information (WES/WGS). They will then be pooled on the RD-Connect platform for the first Solve-RD cohort of 'unsolved cases'. Subsequently they will be re-analysed using state-of-the-art bionformatic tools. For more information please contact: Sanja.hermanns@med.uni-tuebingen.de

If you are a Model Organisms Investigator and wish to register in the European Rare Disease Models & Mechanisms Network to boost research in rare diseases, discover new disease-causing genes and obtain evidence for pathogenicity through functional validation, please visit the RDMM-Europe Registry website: www.solve-rd.eu/rdmm-europe/registry

For more information about Solve-RD, please visit the Solve-RD website or follow on Twitter @Solve_RD.