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

Published version
Peer-reviewed

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Authors

Ellwanger, Kornelia  ORCID logo  https://orcid.org/0000-0003-4845-5795
Vissers, Lisenka ELM  ORCID logo  https://orcid.org/0000-0001-6470-5497
Schüle, Rebecca 

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.

Description

Keywords

Consensus Development Conferences as Topic, Europe, Genetic Diseases, Inborn, Genetic Testing, Humans, Information Dissemination, Intersectoral Collaboration, Rare Diseases, Exome Sequencing

Journal Title

Eur J Hum Genet

Conference Name

Journal ISSN

1018-4813
1476-5438

Volume Title

29

Publisher

Springer Science and Business Media LLC
Sponsorship
EC | Horizon 2020 Framework Programme (EU Framework Programme for Research and Innovation H2020) (779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 779257, 799257)