Obiettivo
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.
Campo scientifico
- natural sciencescomputer and information sciencesdata science
- natural sciencescomputer and information sciencesdatabases
- natural sciencesmathematicspure mathematicsmathematical analysisfunctional analysis
- natural sciencesmathematicspure mathematicsmathematical analysiscomplex analysis
- natural sciencesbiological sciencesgeneticsgenomes
Parole chiave
Programma(i)
Invito a presentare proposte
Vedi altri progetti per questo bandoBando secondario
H2020-SC1-2017-Single-Stage-RTD
Meccanismo di finanziamento
RIA - Research and Innovation actionCoordinatore
72074 Tuebingen
Germania
Mostra sulla mappa
Partecipanti (25)
Partecipazione conclusa
6525 XZ Nijmegen
Mostra sulla mappa
LE1 7RH Leicester
Mostra sulla mappa
NE1 7RU Newcastle Upon Tyne
Mostra sulla mappa
M13 9WL Manchester
Mostra sulla mappa
21000 Dijon
Mostra sulla mappa
Soggetto giuridico diverso da un subappaltatore che è affiliato o legalmente collegato a un partecipante. Il soggetto svolge le attività secondo le condizioni stabilite nell’accordo di sovvenzione, fornisce beni o servizi per l’azione, ma non ha sottoscritto l’accordo di sovvenzione. Una terza parte rispetta le regole applicabili al suo partecipante correlato ai sensi dell’accordo di sovvenzione per quanto riguarda l’ammissibilità dei costi e il controllo delle spese.
21078 Dijon Cedex
Mostra sulla mappa
Partecipazione conclusa
08003 Barcelona
Mostra sulla mappa
75014 Paris
Mostra sulla mappa
75654 Paris
Mostra sulla mappa
116 36 Praha 1
Mostra sulla mappa
69117 Heidelberg
Mostra sulla mappa
04609 Bar Harbor
Mostra sulla mappa
WC2R 2LS London
Mostra sulla mappa
WC1E 6BT London
Mostra sulla mappa
2000 Antwerpen
Mostra sulla mappa
81100 Caserta
Mostra sulla mappa
44121 Ferrara
Mostra sulla mappa
53127 Bonn
Mostra sulla mappa
4200 135 Porto
Mostra sulla mappa
9713 GZ Groningen
Mostra sulla mappa
Partecipazione conclusa
10117 Berlin
Mostra sulla mappa
S1 1WB Sheffield
Mostra sulla mappa
75012 Paris
Mostra sulla mappa
6525 GA Nijmegen
Mostra sulla mappa
08028 Barcelona
Mostra sulla mappa