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Lookup NU author(s): Professor Hanns Lochmuller, Dr Dorota Badowska, Rachel ThompsonORCiD, Professor Annemieke Aartsma-Rus, Libby Wood
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2018 European Society of Human Genetics 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.
Author(s): Lochmuller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2018
Volume: 26
Pages: 778-785
Print publication date: 01/06/2018
Online publication date: 27/02/2018
Acceptance date: 24/01/2018
Date deposited: 05/03/2018
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: https://doi.org/10.1038/s41431-018-0115-5
DOI: 10.1038/s41431-018-0115-5
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