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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.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/genome

Call for proposal

H2020-SC1-2017-Single-Stage-RTD
See other projects for this call

Funding Scheme

RIA - Research and Innovation action

Coordinator

EBERHARD KARLS UNIVERSITAET TUEBINGEN
Address
Geschwister-scholl-platz
72074 Tuebingen
Germany
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 2 718 962,50

Participants (22)

STICHTING KATHOLIEKE UNIVERSITEIT
Netherlands
EU contribution
€ 4 553 445
Address
Geert Grooteplein Noord 9
6525 EZ Nijmegen
Activity type
Higher or Secondary Education Establishments
UNIVERSITY OF LEICESTER
United Kingdom
EU contribution
€ 937 500
Address
University Road
LE1 7RH Leicester
Activity type
Higher or Secondary Education Establishments
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
EU contribution
€ 425 441,25
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne
Activity type
Higher or Secondary Education Establishments
MANCHESTER UNIVERSITY NHS FOUNDATION TRUST
United Kingdom
EU contribution
€ 0
Address
Oxford Road
M13 9WL Manchester
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON
France
EU contribution
€ 352 925
Address
Boulevard Mal De Lattre De Tassigny 2
21000 Dijon
Activity type
Higher or Secondary Education Establishments
FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain
EU contribution
€ 1 689 131,25
Address
Carrer Doctor Aiguader 88
08003 Barcelona
Activity type
Research Organisations
EURORDIS - EUROPEAN ORGANISATION FOR RARE DISEASES ASSOCIATION
France
EU contribution
€ 375 000
Address
Rue Didot 96
75014 Paris
Activity type
Other
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 1 253 888,07
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
UNIVERZITA KARLOVA
Czechia
EU contribution
€ 58 100
Address
Ovocny Trh 560/5
116 36 Praha 1
Activity type
Higher or Secondary Education Establishments
EUROPEAN MOLECULAR BIOLOGY LABORATORY
Germany
EU contribution
€ 125 000
Address
Meyerhofstrasse 1
69117 Heidelberg
Activity type
Research Organisations
THE JACKSON LABORATORY NON PROFIT CORPORATION
United States
EU contribution
€ 446 072,39
Address
Main Street 610
04609 Bar Harbor
Activity type
Other
KING'S COLLEGE LONDON
United Kingdom
EU contribution
€ 213 039,19
Address
Strand
WC2R 2LS London
Activity type
Higher or Secondary Education Establishments
UNIVERSITY COLLEGE LONDON
United Kingdom
EU contribution
€ 303 475
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
UNIVERSITEIT ANTWERPEN
Belgium
EU contribution
€ 134 725
Address
Prinsstraat 13
2000 Antwerpen
Activity type
Higher or Secondary Education Establishments
UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
Italy
EU contribution
€ 77 950
Address
Viale Abramo Lincoln 5
81100 Caserta
Activity type
Higher or Secondary Education Establishments
UNIVERSITA DEGLI STUDI DI FERRARA
Italy
EU contribution
€ 57 250
Address
Via Ariosto 35
44121 Ferrara
Activity type
Higher or Secondary Education Establishments
UNIVERSITATSKLINIKUM BONN
Germany
EU contribution
€ 253 525
Address
Venusberg-campus 1
53127 Bonn
Activity type
Higher or Secondary Education Establishments
IPATIMUP - INSTITUTO DE PATOLOGIA E IMUNOLOGIA MOLECULAR DA UNIVERSIDADE DO PORTO PCUP
Portugal
EU contribution
€ 251 500
Address
Rua Julio Amaral De Carvalho 45
4200 135 Porto
Activity type
Research Organisations
ACADEMISCH ZIEKENHUIS GRONINGEN
Netherlands
EU contribution
€ 650 000
Address
Hanzeplein 1
9713 GZ Groningen
Activity type
Higher or Secondary Education Establishments
CHARITE - UNIVERSITAETSMEDIZIN BERLIN

Participation ended

Germany
EU contribution
€ 7 505,79
Address
Chariteplatz 1
10117 Berlin
Activity type
Higher or Secondary Education Establishments
SHEFFIELD HALLAM UNIVERSITY
United Kingdom
EU contribution
€ 115 460,81
Address
Howard Street City Campus
S1 1WB Sheffield
Activity type
Higher or Secondary Education Establishments
ASSISTANCE PUBLIQUE HOPITAUX DE PARIS
France
EU contribution
€ 38 000
Address
3 Avenue Victoria
75000 Paris
Activity type
Research Organisations