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. 2018 Jun;26(6):778-785.
doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

RD-Connect, NeurOmics and EURenOmics: Collaborative European Initiative for Rare Diseases

Free PMC article

RD-Connect, NeurOmics and EURenOmics: Collaborative European Initiative for Rare Diseases

Hanns Lochmüller et al. Eur J Hum Genet. .
Free PMC article


Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship projects, RD-Connect, NeurOmics, and EURenOmics, to help move the field forward with the ambition of advancing -omics research and data sharing at their core in line with the goals of IRDiRC (International Rare Disease Research Consortium). NeurOmics and EURenOmics generate -omics data and improve diagnosis and therapy in rare renal and neurological diseases, with RD-Connect developing an infrastructure to facilitate the sharing, systematic integration and analysis of these data. Here, we summarize the achievements of these three projects, their impact on the RD community and their vision for the future. We also report from the Joint Outreach Day organized by the three projects on the 3rd of May 2017 in Berlin. The workshop stimulated an open, multi-stakeholder discussion on the challenges of the rare diseases, and highlighted the cross-project cooperation and the common goal: the use of innovative genomic technologies in rare disease research.

Conflict of interest statement

The authors declare that they have no conflict of interest.


Fig. 1
Fig. 1
Collaboration between NeurOmics, EURenOmics and RD-Connect. Two research projects, NeurOmics and EURenOmics, generate large amounts of rare disease (RD) data (box “Research data and samples”) using a number of methods and approaches (box “Research methods”). These yield new therapies and improved diagnosis for RD patients. The omics and deep clinical phenotyping data are uploaded to the RD-Connect Genome-Phenome Analysis Platform (box “Infrastructure for sharing and analysis”), which allows their analysis leading and gene discovery. Researchers from the two projects also provide user feedback helpful in the Platform development. Information about patient registries and biobanks holding NeurOmics and EURenOmics patient data and biosamples are entered in the RD-Connect Registry & Biobank Finder, while detailed information about collected biosamples is shared via the RD-Connect Sample Catalogue. Those data are linked within the RD-Connect infrastructure are shared with the global RD research community, which facilitates rare disease research, diagnosis and therapy development and thus contributes to the IRDiRC goals. To address ethical, legal, and social issues, all three projects work together on developing appropriate best practices for international sharing of patient data
Fig. 2
Fig. 2
Data flow within the RD-Connect infrastructure. Samples donated by RD patients are deposited in biobanks, which allows their usage for further research. Sample sequencing produces omics data, which are uploaded to and processed in the RD-Connect Genome-Phenome Analysis Platform and deposited in the European Genome-Phenome Archive (EGA) for future reuse. In parallel, detailed patient phenotypic records are also uploaded to the platform and linked to the omics data. The platform allows clinicians and researchers to analyse combined genomic and phenotypic data to diagnose patients and discover novel disease genes and phenotypes

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