Solve-RD - Jan 2018

Project title:
Solve-RD - solving the unsolved rare diseases

Project leaders:
Prof. Olaf Riess and Prof Holm Graessner (Univ Tübingen), Prof. Brookes (Leicester) and for the ERN GENTURIS part: Prof. Han Brunner and Prof. Nicoline Hoogerbrugge, Radboudumc, Nijmegen, the Netherlands

Project Description:
The main ambitions of the consortium are:

  • to solve large numbers of rare disease, for which a molecular cause is not known yet by sophisticated combined omics approaches, and
  • to improve diagnostics of rare disease patients through contribution to, participation in and implementation of a “genetic knowledge web” which is based on shared knowledge about genes, genomic variants and phenotypes.

Four ERNs (ERN-RND, ERN EURO-NMD, ERN ITHACA, and ERN GENTURIS) build the core of Solve-RD. Three ERN GENTURIS Full Members are official beneficiaries in SOLVE-RD, the other ERN GENTURIS centers contribute depending on the sub-projects. Other centers can contribute as well; check the SOLVE-RD website for regular calls.

Start date: January 2018

Duration: 5 years

Funder: European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257

Link study page: solve-rd.eu

Solve-RD

What is Solve-RD?

"Solve-RD - solving the unsolved rare diseases" is a research project funded by the European Commission for five years (2018-2022). It echoes the ambitious goals set out by the International Rare Diseases Research Consortium (IRDiRC) to deliver diagnostic tests for most rare diseases by 2020.

The main objectives are:

  • to solve large numbers of Rare Diseases (RD), for which a molecular cause is not known yet, by sophisticated combined Omics approaches, and
  • to improve diagnostics of RD patients through a “genetic knowledge web”

Solve-RD will pursue a clear visionary and integrated “beyond the exome” approach. The entire project has been motivated, designed and put together by a core group of four European Reference Networks: ERN-RND, EURO-NMD, ITHACA and GENTURIS.

 

Solve-RD will deliver 7 main implementation steps:

  • Collect Phenotypes,
  • New phenotype patterns,
  • Re-analyse exomes/genomes,
  • Novel molecular strategies,
  • Functional analysis,
  • Clinical utility and
  • Towards therapy

You will find more information about the project on the Solve RD website.