2026-04-30T03:51:02Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/155672025-06-12T12:25:41Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Zurek, Birte author Ellwanger, Kornelia author Vissers, Lisenka E L M author Schüle, Rebecca author Synofzik, Matthis author Töpf, Ana author de Voer, Richarda M author Laurie, Steven author Matalonga, Leslie author Gilissen, Christian author Ossowski, Stephan author t Hoen, Peter A C author Vitobello, Antonio author Schulze-Hentrich, Julia M author Riess, Olaf author Brunner, Han G author Brookes, Anthony J author Rath, Ana author Bonne, Gisèle author Gumus, Gulcin author Verloes, Alain author Hoogerbrugge, Nicoline author Evangelista, Teresinha author Harmuth, Tina author Swertz, Morris author Spalding, Dylan author Hoischen, Alexander author Beltran, Sergi author Graessner, Holm author Solve-RD consortium author Posada De la Paz, Manuel author Bermejo-Sanchez, Eva author Lopez-Martin, Estrella author Martinez-Delgado, Beatriz author 2021-09 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. Eur J Hum Genet. 2021 Sep;29(9):1325-1331. 10.1038/s41431-021-00859-0 1476-5438 European journal of human genetics : EJHG 34075208 http://hdl.handle.net/20.500.12105/15567 Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases