Document Type

Article

Publication Date

9-1-2021

Publication Title

European journal of human genetics : EJHG

Keywords

JGM

JAX Source

Eur J Hum Genet 2021; 29:1325-1331

Volume

29

Issue

9

First Page

1325

Last Page

1331

ISSN

1476-5438

PMID

34075208

DOI

https://doi.org/10.1038/s41431-021-00859-0

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.

Comments

Dr. Peter Robinson is a member of the Solve-RD Consortium.

This article is licensed under a Creative Commons Attribution 4.0 International License.

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