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

Mostra el registre complet Registre parcial de l'ítem

• 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.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.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.doi http://dx.doi.org/10.1038/s41431-018-0115-5
• dc.identifier.issn 1018-4813
• dc.identifier.uri http://hdl.handle.net/10230/42858
• dc.language.iso eng
• dc.publisher Nature Research
• dc.relation.ispartof Eur J Hum Genet. 2018; 26(6):778-785
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305608
• 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.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Genetic testing
• dc.subject.keyword Genetics research
• dc.subject.keyword Personalized medicine
• dc.title RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion