A large consortium led by Radboud university medical center Nijmegen, the University of Tübingen, and the University of Leicester has received € 15 million funding to improve the diagnosis of rare diseases. Their project is called ‘Solve-RD‘ and is operating under the European Commission’s Horizon 2020 programme.
It has recently become clear that the ‘eye of a doctor’ alone often does not suffice to diagnose a rare disease. The researchers involved in Solve-RD have designed an infrastructure to coordinate and analyse data generated across Europe. Combining the existing exome and genome patient data of the Solve-RD collaborators will substantially increase the chances of finding another patient with the same rare disease. The commitment for sharing data on rare diseases on this scale is unique.
Solve-RD also intends to apply state-of-the-art multi-omics technologies. If the DNA data suggest a certain disease, the researchers will turn to other omics methods that reflect the gene’s function (e.g., transcriptomics, proteomics, metabolomics, and epigenomics). Combining these omics techniques provides the extra information that may ensure that a rare disease is diagnosed. The enormous amount of data resulting from this cross-omics approach must be converted into useful, comprehensible information by bioinformatics experts using smart algorithms.
Solve-RD’s research is directly linked to European healthcare in 24 Reference Networks (ERNs). These ERNs were set up to improve and harmonise diagnosis and treatment for rare disease patients. The virtual networks collectively pool all existing knowledge and remove unnecessary boundaries. Solve-RD will use the RD-Connect Genome-Phenome Analysis Platform to enable clinicians and researchers from the ERNs to analyse, share, and diagnose their most challenging unsolved cases. Read more on the RD-Connect website.