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000155536 0247_ $$2doi$$a10.1038/s41431-021-00859-0
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000155536 037__ $$aDZNE-2021-00715
000155536 041__ $$aEnglish
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000155536 1001_ $$00000-0002-8200-7542$$aZurek, Birte$$b0
000155536 245__ $$aSolve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
000155536 260__ $$aBasingstoke$$bStockton Press$$c2021
000155536 3367_ $$2DRIVER$$aarticle
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000155536 520__ $$aFor 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.
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000155536 650_2 $$2MeSH$$aConsensus Development Conferences as Topic
000155536 650_2 $$2MeSH$$aEurope
000155536 650_2 $$2MeSH$$aGenetic Diseases, Inborn: diagnosis
000155536 650_2 $$2MeSH$$aGenetic Diseases, Inborn: genetics
000155536 650_2 $$2MeSH$$aGenetic Testing: methods
000155536 650_2 $$2MeSH$$aHumans
000155536 650_2 $$2MeSH$$aInformation Dissemination
000155536 650_2 $$2MeSH$$aIntersectoral Collaboration
000155536 650_2 $$2MeSH$$aRare Diseases: diagnosis
000155536 650_2 $$2MeSH$$aRare Diseases: genetics
000155536 650_2 $$2MeSH$$aExome Sequencing: methods
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000155536 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-021-00859-0$$gVol. 29, no. 9, p. 1325 - 1331$$n9$$p1325-1331$$tEuropean journal of human genetics$$v29$$x1018-4813$$y2021
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