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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/21:10432436

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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).

Název v anglickém jazyce

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

Popis výsledku anglicky

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).

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2021

Kód důvěrnosti údajů

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

Název periodika

European Journal of Human Genetics

ISSN

1018-4813

e-ISSN

—

Svazek periodika

29

Číslo periodika v rámci svazku

9

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

7

Strana od-do

1325-1331

Kód UT WoS článku

000656824000001

EID výsledku v databázi Scopus

2-s2.0-85107583586