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 implementation steps
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
Analysis: data driven and expert driven approaches
For analysis, Solve-RD will apply data driven and expert driven approaches. We anticipate increasing the diagnostic yield from 19.000 unsolved exomes/genomes by about 3-5%. Cohort specific innovative -omis strategies will be pursued, also addressing cost-effective issues. Analysis of more than 800 patients with highly peculiar phenotypes will highly increase the chance to find novel disease genes and novel disease mechanisms. We anticipate solving more than 2.000 cases. Finding further matching patients will be secured by newly developed matchmaking approaches and by screening using MIPs technology in the more than 20.000 unclassified patients. For the first time in Europe we will also implement a novel brokerage structure connecting clinicians, gene discoverers and basic researchers to quickly verify novel genes and disease mechanisms.
You will find more information about the project on the Solve RD website.