The CNAG-CRG at PCB participates in a large consortium led by the University of Tübingen, the Radboud University Medical Center Nijmegen and the University of Leicester that has acquired a € 15 million grant for the SOLVE-RD research program he researchers will work directly with four European Reference Networks (ERNs) to share and enhance the knowledge and resources used for treating rare diseases.

SOLVE-RD is a large-scale research program operating under the European Commission’s Horizon 2020 to improve and harmonize diagnosis and treatment for people suffering from rare diseases. The partners of this consortium have designed an infrastructure enabling the coordination and analysis of all data generated across Europe. The commitment for sharing data on rare diseases on this scale is unique.

But SOLVE-RD goes a few steps further by applying the latest available ‘multi-omics’ methods. If the DNA data illuminate a particular disease, researchers turn to other large scale tests that reflect the gene’s function such as RNA, the proteins (proteomics), metabolic products (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 multi-omics approach must be converted into useful, comprehensible information by bioinformatic scientists using smart algorithms.

The Centro Nacional de Análisis Genómico (CNAG-CRG) hosts the RD-Connect Genome-Phenome Analysis Platform which will be used in SOLVE-RD to collate existing and newly generated genomic and phenotypic data. This platform provides user friendly state-of-the-art analytics to registered researchers and clinicians while enabling rare disease data sharing. The CNAG-CRG will also contribute to the SOLVE-RD project with the development of new data integration, analysis and sharing methods.