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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F21%3A10432436" target="_blank" >RIV/00064203:_____/21:10432436 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/21:10432436

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=aOSFxpXWFN" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=aOSFxpXWFN</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41431-021-00859-0" target="_blank" >10.1038/s41431-021-00859-0</a>

Result language

angličtina

Original language name

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

Original language description

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient&apos;s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together &gt;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 &gt;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. (C) 2021, The Author(s).

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

—

Volume of the periodical

29

Issue of the periodical within the volume

9

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

1325-1331

UT code for WoS article

000656824000001

EID of the result in the Scopus database

2-s2.0-85107583586