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 natural sciencescomputer and information sciencesdata sciencenatural sciencescomputer and information sciencesknowledge engineeringontologynatural sciencesmathematicspure mathematicsmathematical analysisfunctional analysisnatural sciencesmathematicspure mathematicsmathematical analysiscomplex analysisnatural sciencesbiological sciencesgeneticsgenomes Keywords European Reference Networks Solving the Unsolved Expert-driven and data-driven approaches Programme(s) H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and well-being Main Programme H2020-EU.3.1.1. - Understanding health, wellbeing and disease Topic(s) SC1-PM-03-2017 - Diagnostic characterisation of rare diseases Call for proposal H2020-SC1-2016-2017 See other projects for this call Sub call H2020-SC1-2017-Single-Stage-RTD Funding Scheme RIA - Research and Innovation action Coordinator EBERHARD KARLS UNIVERSITAET TUEBINGEN Net EU contribution € 2 720 479,42 Address Geschwister-scholl-platz 72074 Tuebingen Germany See on map Region Baden-Württemberg Tübingen Tübingen, Landkreis Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Participants (24) Sort alphabetically Sort by Net EU contribution Expand all Collapse all STICHTING RADBOUD UNIVERSITEIT Participation ended Netherlands Net EU contribution € 679 214,90 Address Houtlaan 4 6525 XZ Nijmegen See on map Region Oost-Nederland Gelderland Arnhem/Nijmegen Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITY OF LEICESTER United Kingdom Net EU contribution € 906 250,00 Address University road LE1 7RH Leicester See on map Region East Midlands (England) Leicestershire, Rutland and Northamptonshire Leicester Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITY OF NEWCASTLE UPON TYNE United Kingdom Net EU contribution € 376 577,88 Address Kings gate NE1 7RU Newcastle upon tyne See on map Region North East (England) Northumberland and Tyne and Wear Tyneside Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 MANCHESTER UNIVERSITY NHS FOUNDATION TRUST United Kingdom Net EU contribution € 299 825,00 Address Oxford road M13 9WL Manchester See on map Region North West (England) Greater Manchester Manchester Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON France Net EU contribution € 285 757,00 Address Boulevard mal de lattre de tassigny 2 21000 Dijon See on map Region Bourgogne-Franche-Comté Bourgogne Côte-d’Or Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 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 See on map Region Bourgogne-Franche-Comté Bourgogne Côte-d’Or Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 FUNDACIO CENTRE DE REGULACIO GENOMICA Spain Net EU contribution € 1 700 273,08 Address Carrer doctor aiguader 88 08003 Barcelona See on map Region Este Cataluña Barcelona Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 EURORDIS - RARE DISEASES EUROPE France Net EU contribution € 375 000,00 Address Rue didot 96 75014 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Other Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 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 See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERZITA KARLOVA Czechia Net EU contribution € 58 775,00 Address Ovocny trh 560/5 116 36 Praha 1 See on map Region Česko Praha Hlavní město Praha Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 EUROPEAN MOLECULAR BIOLOGY LABORATORY Germany Net EU contribution € 125 000,00 Address Meyerhofstrasse 1 69117 Heidelberg See on map Region Baden-Württemberg Karlsruhe Heidelberg, Stadtkreis Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 THE JACKSON LABORATORY NON PROFIT CORPORATION United States Net EU contribution € 446 072,39 Address Main street 610 04609 Bar harbor See on map Activity type Other Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 KING'S COLLEGE LONDON United Kingdom Net EU contribution € 213 039,19 Address Strand WC2R 2LS London See on map Region London Inner London — West Westminster Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITY COLLEGE LONDON United Kingdom Net EU contribution € 303 500,00 Address Gower street WC1E 6BT London See on map Region London Inner London — West Camden and City of London Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITEIT ANTWERPEN Belgium Net EU contribution € 135 400,00 Address Prinsstraat 13 2000 Antwerpen See on map Region Vlaams Gewest Prov. Antwerpen Arr. Antwerpen Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI Italy Net EU contribution € 80 675,00 Address Viale abramo lincoln 5 81100 Caserta See on map Region Sud Campania Caserta Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITA DEGLI STUDI DI FERRARA Italy Net EU contribution € 57 250,00 Address Via ariosto 35 44121 Ferrara See on map Region Nord-Est Emilia-Romagna Ferrara Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITATSKLINIKUM BONN Germany Net EU contribution € 253 525,00 Address Venusberg-campus 1 53127 Bonn See on map Region Nordrhein-Westfalen Köln Bonn, Kreisfreie Stadt Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 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 See on map Region Continente Norte Área Metropolitana do Porto Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ACADEMISCH ZIEKENHUIS GRONINGEN Netherlands Net EU contribution € 650 000,00 Address Hanzeplein 1 9713 GZ Groningen See on map Region Noord-Nederland Groningen Overig Groningen Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 CHARITE - UNIVERSITAETSMEDIZIN BERLIN Participation ended Germany Net EU contribution € 7 505,79 Address Chariteplatz 1 10117 Berlin See on map Region Berlin Berlin Berlin Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 SHEFFIELD HALLAM UNIVERSITY United Kingdom Net EU contribution € 115 460,81 Address Howard street city campus S1 1WB Sheffield See on map Region Yorkshire and the Humber South Yorkshire Sheffield Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 ASSISTANCE PUBLIQUE HOPITAUX DE PARIS France Net EU contribution € 45 350,00 Address 55 boulevard diderot 75012 Paris See on map Region Ile-de-France Ile-de-France Val-de-Marne Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM Netherlands Net EU contribution € 3 938 071,34 Address Geert grooteplein 10 zuid 6525 GA Nijmegen See on map Region Oost-Nederland Gelderland Arnhem/Nijmegen Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00
