Objective
The main ambitions of the Solve-RD proposal are (i) to solve large numbers of RD, for which a molecular cause is not known yet, by sophisticated combined Omics approaches, and (ii) 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 Solve-RD proposal has been motivated, designed and put together by a core group of four ERNs, but also reaches out to all 24 ERNs. To tackle diseases which are unsolved by applying cutting edge strategies, Solve-RD has thus formed a consortium that comprises (i) leading clinicians, geneticists and translational researchers of these ERNs, (ii) RD research and diagnostic infrastructures, (iii) patient organisations, as well as (iv) leading experts in the field of -omics technologies, bioinformatics and knowledge management. Solve-RD will deliver 7 main implementation steps: (i) Collect Phenotypes, (ii) New phenotype patterns, (iii) Re-analyse exomes / genomes, (iv) Novel molecular strategies, (v) Functional analysis, (iv) Clinical utility and (vii) Towards therapy. For analysis Solve-RD will apply data driven and expert driven approaches. We anticipate to increase 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 (ultra-rare) phenotypes will highly increase the chance to find novel disease genes and novel disease mechanisms. We anticipate to solve 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 of the ERNs. For the first time in Europe we will also implement a novel brokerage structure connecting clinicians, gene discoverer and basic researcher to quickly verify novel genes and disease mechanisms.
Fields of science
Programme(s)
Funding Scheme
RIA - Research and Innovation actionCoordinator
72074 Tuebingen
Germany
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Participants (25)
Participation ended
6525 XZ Nijmegen
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LE1 7RH Leicester
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NE1 7RU Newcastle Upon Tyne
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M13 9WL Manchester
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21000 Dijon
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Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure.
21078 Dijon Cedex
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Participation ended
08003 Barcelona
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75014 Paris
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75654 Paris
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116 36 Praha 1
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69117 Heidelberg
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04609 Bar Harbor
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WC2R 2LS London
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WC1E 6BT London
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2000 Antwerpen
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81100 Caserta
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44121 Ferrara
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53127 Bonn
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4200 135 Porto
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9713 GZ Groningen
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Participation ended
10117 Berlin
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S1 1WB Sheffield
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75012 Paris
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6525 GA Nijmegen
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08028 Barcelona
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