Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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  • dc.contributor.author Zurek, Birte
  • dc.contributor.author Laurie, Steven, 1973-
  • dc.contributor.author Beltran, Sergi
  • dc.contributor.author Solve-RD Consortium
  • dc.date.accessioned 2021-11-19T07:04:55Z
  • dc.date.available 2021-11-19T07:04:55Z
  • dc.date.issued 2021
  • dc.description.abstract For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.
  • dc.description.sponsorship The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. This research is supported (not financially) by four ERNs: (1) The ERN for Intellectual Disability, Telehealth and Congenital Anomalies (ERN-ITHACA)—Project ID No 869189; (2) The ERN on Rare Neurological Diseases (ERN-RND)—Project ID No 739510; (3) The ERN for Neuromuscular Diseases (ERN Euro-NMD)—Project ID No 870177; (4) The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS)—Project ID No 739547. The ERNs are co-funded by the European Union within the framework of the Third Health Programme.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. 2021;29(9):1325-31. DOI: 10.1038/s41431-021-00859-0
  • dc.identifier.doi http://dx.doi.org/10.1038/s41431-021-00859-0
  • dc.identifier.issn 1018-4813
  • dc.identifier.uri http://hdl.handle.net/10230/49022
  • dc.language.iso spa
  • dc.publisher Nature Research
  • dc.relation.ispartof Eur J Hum Genet. 2021;29(9):1325-31
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
  • dc.rights © The Author(s) 2021. 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 Diseases
  • dc.subject.keyword Medical genetics
  • dc.title Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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