RD-connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

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Abstract: 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

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: European journal of human genetics. - 26, 6 (2018) , 778-785, ISSN: 1018-4813

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2019

Creator: Lochmüller, Hanns
Badowska, Dorota M.
Thompson, Rachel
Knoers, Nine V. A. M.
Aartsma-Rus, Annemieke
Gut, Ivo
Wood, Libby
Harmuth, Tina
Durudas, Andre
Graessner, Holm
Schaefer, Franz
Rieß, Olaf

Contributor: Klinik für Neuropädiatrie und Muskelerkrankungen

DOI: 10.1038/s41431-018-0115-5

URN: urn:nbn:de:bsz:25-freidok-1479960

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:37 AM CEST

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Associated

Lochmüller, Hanns
Badowska, Dorota M.
Thompson, Rachel
Knoers, Nine V. A. M.
Aartsma-Rus, Annemieke
Gut, Ivo
Wood, Libby
Harmuth, Tina
Durudas, Andre
Graessner, Holm
Schaefer, Franz
Rieß, Olaf
Klinik für Neuropädiatrie und Muskelerkrankungen
Universität

Time of origin

2019

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RD-connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

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Other Objects (12)

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