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Solving the unsolved Rare Diseases

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.

Call for proposal

H2020-SC1-2016-2017

See other projects for this call

Sub call

H2020-SC1-2017-Single-Stage-RTD

Coordinator

EBERHARD KARLS UNIVERSITAET TUEBINGEN
Net EU contribution
€ 2 720 479,42
Address
Geschwister-scholl-platz
72074 Tuebingen
Germany
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Baden-Württemberg Tübingen Tübingen, Landkreis

Participants (24)

STICHTING RADBOUD UNIVERSITEIT

Participation ended

Netherlands
Net EU contribution
€ 679 214,90
Address
Houtlaan 4
6525 XZ Nijmegen
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSITY OF LEICESTER
United Kingdom
Net EU contribution
€ 906 250,00
Address
University Road
LE1 7RH Leicester
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
East Midlands (England) Leicestershire, Rutland and Northamptonshire Leicester
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
Net EU contribution
€ 376 577,88
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
North East (England) Northumberland and Tyne and Wear Tyneside
MANCHESTER UNIVERSITY NHS FOUNDATION TRUST
United Kingdom
Net EU contribution
€ 299 825,00
Address
Oxford Road
M13 9WL Manchester
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Non-EU contribution
€ 0,00
Region
North West (England) Greater Manchester Manchester
CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON
France
Net EU contribution
€ 285 757,00
Address
Boulevard Mal De Lattre De Tassigny 2
21000 Dijon
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Bourgogne-Franche-Comté Bourgogne Côte-d’Or
Third-party

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.

UNIVERSITE DIJON BOURGOGNE
France
Net EU contribution
€ 69 043,00
Address
Esplanade Erasme Maison De L Universite
21078 Dijon Cedex
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Bourgogne-Franche-Comté Bourgogne Côte-d’Or
FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain
Net EU contribution
€ 1 700 273,08
Address
Carrer Doctor Aiguader 88
08003 Barcelona
Activity type
Research Organisations
Non-EU contribution
€ 0,00
EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION
France
Net EU contribution
€ 375 000,00
Address
Rue Didot 96
75014 Paris
Activity type
Other
Non-EU contribution
€ 0,00
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
Net EU contribution
€ 1 268 076,45
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
UNIVERZITA KARLOVA
Czechia
Net EU contribution
€ 58 775,00
Address
Ovocny Trh 560/5
116 36 Praha 1
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany
Net EU contribution
€ 125 000,00
Address
Meyerhofstrasse 1
69117 Heidelberg
Activity type
Research Organisations
Non-EU contribution
€ 0,00
Region
Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis
THE JACKSON LABORATORY NON PROFIT CORPORATION
United States
Net EU contribution
€ 446 072,39
Address
Main Street 610
04609 Bar Harbor
Activity type
Other
Non-EU contribution
€ 0,00
KING'S COLLEGE LONDON
United Kingdom
Net EU contribution
€ 213 039,19
Address
Strand
WC2R 2LS London
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSITY COLLEGE LONDON
United Kingdom
Net EU contribution
€ 303 500,00
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
London Inner London — West Camden and City of London
UNIVERSITEIT ANTWERPEN
Belgium
Net EU contribution
€ 135 400,00
Address
Prinsstraat 13
2000 Antwerpen
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
Italy
Net EU contribution
€ 80 675,00
Address
Viale Abramo Lincoln 5
81100 Caserta
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSITA DEGLI STUDI DI FERRARA
Italy
Net EU contribution
€ 57 250,00
Address
Via Ariosto 35
44121 Ferrara
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSITATSKLINIKUM BONN
Germany
Net EU contribution
€ 253 525,00
Address
Venusberg-campus 1
53127 Bonn
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Nordrhein-Westfalen Köln Bonn, Kreisfreie Stadt
IPATIMUP - INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO PCUP
Portugal
Net EU contribution
€ 251 500,00
Address
Rua Julio Amaral De Carvalho 45
4200 135 Porto
Activity type
Research Organisations
Non-EU contribution
€ 0,00
Region
Continente Norte Área Metropolitana do Porto
ACADEMISCH ZIEKENHUIS GRONINGEN
Netherlands
Net EU contribution
€ 650 000,00
Address
Hanzeplein 1
9713 GZ Groningen
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
CHARITE - UNIVERSITAETSMEDIZIN BERLIN

Participation ended

Germany
Net EU contribution
€ 7 505,79
Address
Chariteplatz 1
10117 Berlin
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
SHEFFIELD HALLAM UNIVERSITY
United Kingdom
Net EU contribution
€ 115 460,81
Address
Howard Street City Campus
S1 1WB Sheffield
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Yorkshire and the Humber South Yorkshire Sheffield
 
ASSISTANCE PUBLIQUE HOPITAUX DE PARIS
France
Net EU contribution
€ 45 350,00
Address
3 Avenue Victoria
75000 Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Netherlands
Net EU contribution
€ 3 938 071,34
Address
Geert Grooteplein 10 Zuid
6525 GA Nijmegen
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
Region
Oost-Nederland Gelderland Arnhem/Nijmegen