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

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dc.contributor.author Lochmüller, Hanns
dc.contributor.author Badowska, Dorota M.
dc.contributor.author Thompson, Rachel
dc.contributor.author Knoers, Nine V.
dc.contributor.author Aartsma-Rus, Annemieke
dc.contributor.author Gut, Ivo Glynne
dc.contributor.author Wood, Libby
dc.contributor.author Harmuth, Tina
dc.contributor.author Durudas, Andre
dc.contributor.author Graessner, Holm
dc.contributor.author Schaefer, Franz
dc.contributor.author Riess, Olaf
dc.contributor.author RD-Connect consortium
dc.contributor.author NeurOmics consortium
dc.contributor.author EURenOmics consortium
dc.date.accessioned 2019-11-15T08:12:43Z
dc.date.available 2019-11-15T08:12:43Z
dc.date.issued 2018
dc.identifier.citation Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet. 2018; 26(6):778-785. DOI 10.1038/s41431-018-0115-5
dc.identifier.issn 1018-4813
dc.identifier.uri http://hdl.handle.net/10230/42858
dc.description.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.
dc.description.sponsorship This work has received funding from the European Community’s Seventh Framework Program (FP7/2007–2013) under grant agreement n° 305444 “RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research”, grant agreement n° 2012-305121 “Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)” and n° 305608 “EURenOmics”. Hanns Lochmüller has received funding from the Medical Research Council UK (grant reference G1002274, grant ID 98482). We would like to thank Victoria Hedley for her support in dissemination of the RD-Connect project and Ana Töpf for her feedback, which helped to develop the Genome-Phenome Analysis Platform.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartof Eur J Hum Genet. 2018; 26(6):778-785
dc.rights © The Author(s) 2018. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41431-018-0115-5
dc.subject.keyword Genetic testing
dc.subject.keyword Genetics research
dc.subject.keyword Personalized medicine
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305608
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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