EURENOMICS
European Consortium for High-Throughput Research in Rare Kidney Diseases
| Coordinatore | UNIVERSITAETSKLINIKUM HEIDELBERG
Organization address
address: IM NEUENHEIMER FELD 672 contact info |
| Nazionalità Coordinatore | Germany [DE] |
| Totale costo | 15˙820˙098 € |
| EC contributo | 11˙994˙567 € |
| Programma | FP7-HEALTH
Specific Programme "Cooperation": Health |
| Code Call | FP7-HEALTH-2012-INNOVATION-1 |
| Funding Scheme | CP-IP |
| Anno di inizio | 2012 |
| Periodo (anno-mese-giorno) | 2012-10-01 - 2017-09-30 |
Partecipanti
| # | ||||
|---|---|---|---|---|
| 1 |
UNIVERSITAETSKLINIKUM HEIDELBERG
Organization address
address: IM NEUENHEIMER FELD 672 contact info |
DE (HEIDELBERG) | coordinator | 980˙000.00 |
| 2 |
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
Organization address
address: 101 Rue de Tolbiac contact info |
FR (PARIS) | participant | 1˙845˙713.00 |
| 3 |
Genomatix Software GmbH
Organization address
address: Bayerstrasse 85a contact info |
DE (Muenchen) | participant | 957˙000.00 |
| 4 |
UNIVERSITAET ZUERICH
Organization address
address: Raemistrasse 71 contact info |
CH (ZURICH) | participant | 850˙840.00 |
| 5 |
ISTITUTO DI RICERCHE FARMACOLOGICHE MARIO NEGRI
Organization address
address: Via Giuseppe La Masa 19 contact info |
IT (MILANO) | participant | 650˙001.00 |
| 6 |
STICHTING KATHOLIEKE UNIVERSITEIT
Organization address
address: GEERT GROOTEPLEIN NOORD 9 contact info |
NL (NIJMEGEN) | participant | 521˙691.00 |
| 7 |
METABOMETRIX LTD
Organization address
address: PRINCE CONSORT ROAD contact info |
UK (LONDON) | participant | 507˙000.00 |
| 8 |
GABO:MI GESELLSCHAFT FUR ABLAUFORGANISATION:MILLIARIUM MBH & CO KG GAB O
Organization address
address: Oskar-von-Miller-Ring 29 contact info |
DE (MUENCHEN) | participant | 450˙000.00 |
| 9 |
UNIVERSITAIR MEDISCH CENTRUM UTRECHT
Organization address
address: HEIDELBERGLAAN 100 contact info |
NL (UTRECHT) | participant | 444˙910.00 |
| 10 |
PHILOCHEM AG
Organization address
address: WOLFGANG PAULI STRASSE 10 contact info |
CH (ZURICH) | participant | 440˙000.00 |
| 11 |
UNIVERSITY COLLEGE LONDON
Organization address
address: GOWER STREET contact info |
UK (LONDON) | participant | 424˙156.00 |
| 12 |
UNIVERSITY OF MICHIGAN THE REGENTS OF THE UNIVERSITY OF MICHIGAN
Organization address
address: SOUTH STREET 3003 1068 contact info |
US (ANN ARBOR) | participant | 418˙198.00 |
| 13 |
COMPREHENSIVE BIOMARKER CENTER GMBH
Organization address
address: IM NEUENHEIMER FELD 519 contact info |
DE (HEIDELBERG) | participant | 410˙000.00 |
| 14 |
HACETTEPE UNIVERSITESI
Organization address
address: HACETTEPE UNIVERSITESI BEYTEPE KAMPUSU REKTORLUK BINASI contact info |
TR (CANKAYA ANKARA) | participant | 375˙000.00 |
| 15 |
MULTIPLICOM NV
Organization address
address: GALILEILAAN 18 contact info |
BE (NIEL) | participant | 351˙600.00 |
| 16 |
MOSAIQUES DIAGNOSTICS GMBH
Organization address
address: Mellendorfer Strasse 7-9 contact info |
DE (HANNOVER) | participant | 345˙000.00 |
| 17 |
LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN
Organization address
address: GESCHWISTER SCHOLL PLATZ 1 contact info |
DE (MUENCHEN) | participant | 280˙000.00 |
| 18 |
THE UNIVERSITY OF MANCHESTER
Organization address
address: OXFORD ROAD contact info |
UK (MANCHESTER) | participant | 249˙883.00 |
| 19 |
UNIVERSITY OF BRISTOL
Organization address
address: TYNDALL AVENUE SENATE HOUSE contact info |
UK (BRISTOL) | participant | 249˙517.00 |
| 20 |
OULUN YLIOPISTO
Organization address
address: Pentti Kaiteran Katu 1 contact info |
FI (OULU) | participant | 234˙900.00 |
| 21 |
AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS
Organization address
address: CALLE SERRANO 117 contact info |
ES (MADRID) | participant | 200˙000.00 |
| 22 |
ACQUIFER AG
Organization address
address: SOPHIENSTRASSE 136 contact info |
DE (KARLSRUHE) | participant | 157˙314.50 |
| 23 |
LEIBNIZ-INSTITUT FUR NATURSTOFF-FORSCHUNG UND INFEKTIONSBIOLOGIE EV HANS KNOELL INSTITUTE
Organization address
address: Beutenbergstrasse 11a contact info |
DE (JENA) | participant | 150˙000.00 |
| 24 |
PHILOGEN SPA
Organization address
address: PIAZZA LA LIZZA 7 contact info |
IT (SIENA) | participant | 149˙960.00 |
| 25 |
ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS
Organization address
address: 3 Avenue Victoria contact info |
FR (PARIS) | participant | 149˙640.00 |
| 26 |
UNIVERSITY OF NEWCASTLE UPON TYNE
Organization address
address: Kensington Terrace 6 contact info |
UK (NEWCASTLE UPON TYNE) | participant | 149˙592.00 |
| 27 |
KATHOLIEKE UNIVERSITEIT LEUVEN
Organization address
address: Oude Markt 13 contact info |
BE (LEUVEN) | participant | 49˙998.00 |
| 28 |
Karlsruher Institut fuer Technologie
Organization address
address: Kaiserstrasse 12 contact info |
DE (Karlsruhe) | participant | 2˙653.05 |
Mappa
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Obiettivo del progetto (Objective)
'EURenOmics will integrate several established consortia devoted to rare kidney diseases with eminent need and potential for diagnostic and therapeutic progress (i.e. steroid resistant nephrotic syndrome, membranous nephropathy, tubulopathies, complement disorders such a haemolytic uraemic syndrome, and congenital kidney malformations). The Consortium has access to the largest clinical cohorts assembled to date (collectively >10,000 patients) with detailed phenotypic information and comprehensive biorepositories containing DNA, blood, urine, amniotic fluid and kidney tissue. The project aims to (1) identify the genetic and epigenetic causes and modifiers of disease and their molecular pathways; (2) define a novel mechanistic disease ontology beyond phenotypical or morphological description; (3) develop innovative technologies allowing rapid diagnostic testing; (4) discover and validate biomarkers of disease activity, prognosis and treatment responses; and (5) develop in vitro and in vivo disease models and apply high-throughput compound library screening. For these purposes we will integrate comprehensive data sets from next generation exome and whole-genome sequencing, ChiP-sequencing, tissue transcriptome and antigen/epitope profiling, and miRNome, proteome/peptidome, and metabolome screening in different body fluids within and across conventional diagnostic categories. These data will be combined in a systems biology approach with high-resolution clinical phenotyping and findings obtained with a large array of established and novel in vitro, ex vivo and in vivo disease models (‘functiomics’) to identify disease-associated genetic variants involved in monogenic or complex genetic transmission, disease-defining molecular signatures, and potential targets for therapeutic intervention. These efforts will converge in the development of innovative diagnostic tools and biomarkers and efficient screening strategies for novel therapeutic agents.'
Introduzione (Teaser)
European researchers are using high-throughput technologies to delineate the mechanisms and explore novel therapeutic approaches for rare kidney diseases. The ultimate goal is to improve the dismal prognosis of patient with these disorders.
Descrizione progetto (Article)
Rare kidney diseases are a group of disorders of unknown genetic or molecular aetiology and are characterised by significant phenotypic variability. Although they have a dismal impact on life expectancy and quality of life, diagnostic and therapeutic management options are highly unsatisfactory. Currently there are no molecular markers or models to allow for efficient prediction of disease risk.
High-throughput studies are possible for rare kidney diseases using kidney biopsies. Subsequent transcriptomic, proteomic and morphological analyses should provide invaluable insight into the pathogenesis of these rare disorders. In addition, urine and amniotic fluid constitute excellent molecular readouts that could give an indication of renal malfunction.
The EU-funded http://www.eurenomics.eu/ (EURENOMICS) (European consortium for high-throughput research in rare kidney diseases) project is utilising high-throughput technologies to perform a large scale analysis of patient samples. The consortium has access to a large cohort of over 15 000 patients and biorepositories of DNA, serum, amniotic fluid and kidney biopsy specimens.
The activities of the project include the search for new genes that cause, modify or predispose individuals to disease phenotypes. So far novel disease-causing mutations and genomic rearrangements have been detected, while exome sequencing has identified new genes implicated in these disorders. Numerous additional candidate disease genes are currently undergoing functional characterisation.
The consortium is also performing multi-level molecular profiling (mRNA, miRNA, proteome, metabolome) of body fluids and renal tissues to identify unique molecular disease signatures. They are searching for novel antigens and antibodies, and have made significant progress with respect to the molecular mechanisms of auto-immune disease.
Fundamental new insights into disease penetrance indicated that in NPHS2 glomerulopathy, phenotype is directly dependent on the nature of the combining mutations. This discovery is the first description of mutation-dependent recessive inheritance in human genetics.
From a therapeutic perspective, scientists have developed in vitro and in vivo models for screening compound libraries for novel therapeutic agents. Combined with other technologies they envisage diagnostic progress, risk prediction as well as strategies for disease management.