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EURENOMICS

European Consortium for High-Throughput Research in Rare Kidney Diseases

Coordinatore	UNIVERSITAETSKLINIKUM HEIDELBERG Organization address address: IM NEUENHEIMER FELD 672 city: HEIDELBERG postcode: 69120 contact info Titolo: Mr. Nome: Thorsten Cognome: Brietz Email: send email Telefono: +49 6221 567086 Fax: +49 6221 565460
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

#	participant	country	role	EC contrib. [€]
1	UNIVERSITAETSKLINIKUM HEIDELBERG Organization address address: IM NEUENHEIMER FELD 672 city: HEIDELBERG postcode: 69120 contact info Titolo: Mr. Nome: Thorsten Cognome: Brietz Email: send email Telefono: +49 6221 567086 Fax: +49 6221 565460	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 city: PARIS postcode: 75654 contact info Titolo: Mr. Nome: Nicolas Cognome: Jeanjean Email: send email Telefono: +33 1 40 78 49 01 Fax: +33 1 40 78 49 98	FR (PARIS)	participant	1˙845˙713.00
3	Genomatix Software GmbH Organization address address: Bayerstrasse 85a city: Muenchen postcode: 80335 contact info Titolo: Dr. Nome: Korbinian Cognome: Grote Email: send email Telefono: +49 89 599766 61 Fax: +49 89 599766 55	DE (Muenchen)	participant	957˙000.00
4	UNIVERSITAET ZUERICH Organization address address: Raemistrasse 71 city: ZURICH postcode: 8006 contact info Titolo: Prof. Nome: Olivier Cognome: Devuyst Email: send email Telefono: +41 44 635 50 82 Fax: +41 44 635 68 14	CH (ZURICH)	participant	850˙840.00
5	ISTITUTO DI RICERCHE FARMACOLOGICHE MARIO NEGRI Organization address address: Via Giuseppe La Masa 19 city: MILANO postcode: 20156 contact info Titolo: Ms. Nome: Maria Grazia Cognome: Pezzoni Email: send email Telefono: +39 02 39014304 Fax: +39 02 39009728	IT (MILANO)	participant	650˙001.00
6	STICHTING KATHOLIEKE UNIVERSITEIT Organization address address: GEERT GROOTEPLEIN NOORD 9 city: NIJMEGEN postcode: 6525 EZ contact info Titolo: Mr. Nome: Wim Cognome: Van Oijen Email: send email Telefono: +31 24 36 19419	NL (NIJMEGEN)	participant	521˙691.00
7	METABOMETRIX LTD Organization address address: PRINCE CONSORT ROAD city: LONDON postcode: SW7 2BP contact info Titolo: Prof. Nome: John Cognome: Lindon Email: send email Telefono: +44 20 7594 3194 Fax: +44 20 7594 3066	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 city: MUENCHEN postcode: 80333 contact info Titolo: Mrs. Nome: Birgit Cognome: Fuchs Email: send email Telefono: +49 89 288 104 14 Fax: +49 89 288 104 20	DE (MUENCHEN)	participant	450˙000.00
9	UNIVERSITAIR MEDISCH CENTRUM UTRECHT Organization address address: HEIDELBERGLAAN 100 city: UTRECHT postcode: 3584 CX contact info Titolo: Mr. Nome: Joost Cognome: Warsanis Email: send email Telefono: +31 88 7568064 Fax: +31 88 7553660	NL (UTRECHT)	participant	444˙910.00
10	PHILOCHEM AG Organization address address: WOLFGANG PAULI STRASSE 10 city: ZURICH postcode: 8093 contact info Titolo: Dr. Nome: Sarah Cognome: Wulhfard Email: send email Telefono: +41 43 544 88 10 Fax: +41 43 544 88 09	CH (ZURICH)	participant	440˙000.00
11	UNIVERSITY COLLEGE LONDON Organization address address: GOWER STREET city: LONDON postcode: WC1E 6BT contact info Titolo: Mr. Nome: Borg-Carbott Cognome: Greta Email: send email Telefono: 442031000000 Fax: 442078000000	UK (LONDON)	participant	424˙156.00
12	UNIVERSITY OF MICHIGAN THE REGENTS OF THE UNIVERSITY OF MICHIGAN Organization address address: SOUTH STREET 3003 1068 city: ANN ARBOR postcode: 46109 1274 contact info Titolo: Ms. Nome: Christine Cognome: Koch Email: send email Telefono: +1 734 764 7250 Fax: +1 734 764 4053	US (ANN ARBOR)	participant	418˙198.00
13	COMPREHENSIVE BIOMARKER CENTER GMBH Organization address address: IM NEUENHEIMER FELD 519 city: HEIDELBERG postcode: 69120 contact info Titolo: Dr. Nome: Markus Cognome: Beier Email: send email Telefono: +49 6221 6510 380 Fax: +49 6221 6510 329	DE (HEIDELBERG)	participant	410˙000.00
14	HACETTEPE UNIVERSITESI Organization address address: HACETTEPE UNIVERSITESI BEYTEPE KAMPUSU REKTORLUK BINASI city: CANKAYA ANKARA postcode: 6800 contact info Titolo: Prof. Nome: Fatih Cognome: Ozaltin Email: send email Telefono: +90 312 305 2645 Fax: +90 312 309 4232	TR (CANKAYA ANKARA)	participant	375˙000.00
15	MULTIPLICOM NV Organization address address: GALILEILAAN 18 city: NIEL postcode: 2845 contact info Titolo: Mr. Nome: Luc Cognome: Lammens Email: send email Telefono: +32 4995254524 Fax: +32 24017218	BE (NIEL)	participant	351˙600.00
16	MOSAIQUES DIAGNOSTICS GMBH Organization address address: Mellendorfer Strasse 7-9 city: HANNOVER postcode: 30625 contact info Titolo: Dr. Nome: Petra Cognome: Zürbig Email: send email Telefono: +49 511 554744 15 Fax: +49 511 554744 31	DE (HANNOVER)	participant	345˙000.00
17	LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN Organization address address: GESCHWISTER SCHOLL PLATZ 1 city: MUENCHEN postcode: 80539 contact info Titolo: Prof. Nome: André Cognome: Brändli Email: send email Telefono: +49 89 2180 76531 Fax: +49 89 2180 76503	DE (MUENCHEN)	participant	280˙000.00
18	THE UNIVERSITY OF MANCHESTER Organization address address: OXFORD ROAD city: MANCHESTER postcode: M13 9PL contact info Titolo: Dr. Nome: Katherine Cognome: Boylan Email: send email Telefono: +44 161 275 8796 Fax: +44 161 275 2445	UK (MANCHESTER)	participant	249˙883.00
19	UNIVERSITY OF BRISTOL Organization address address: TYNDALL AVENUE SENATE HOUSE city: BRISTOL postcode: BS8 1TH contact info Titolo: Mrs. Nome: Elodie Cognome: Mahieu-Wedande Email: send email Telefono: +44 117 3318309	UK (BRISTOL)	participant	249˙517.00
20	OULUN YLIOPISTO Organization address address: Pentti Kaiteran Katu 1 city: OULU postcode: 90014 contact info Titolo: Mr. Nome: Arto Cognome: Eljander Email: send email Telefono: +358 8 5534133 Fax: +358 8 5534170	FI (OULU)	participant	234˙900.00
21	AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS Organization address address: CALLE SERRANO 117 city: MADRID postcode: 28006 contact info Titolo: Prof. Nome: Alberto Cognome: Sereno Alvarez Email: send email Telefono: +34 915668852 Fax: 34915668913	ES (MADRID)	participant	200˙000.00
22	ACQUIFER AG Organization address address: SOPHIENSTRASSE 136 city: KARLSRUHE postcode: 76135 contact info Nome: Ralf Cognome: Mulflur Email: send email Telefono: +49 7218308740 Fax: +49 72183087499	DE (KARLSRUHE)	participant	157˙314.50
23	LEIBNIZ-INSTITUT FUR NATURSTOFF-FORSCHUNG UND INFEKTIONSBIOLOGIE EV HANS KNOELL INSTITUTE Organization address address: Beutenbergstrasse 11a city: JENA postcode: 7745 contact info Titolo: Dr. Nome: Michael Cognome: Ramm Email: send email Telefono: +49 3641 5321011 Fax: +49 3641 5320801	DE (JENA)	participant	150˙000.00
24	PHILOGEN SPA Organization address address: PIAZZA LA LIZZA 7 city: SIENA postcode: 53100 contact info Titolo: Dr. Nome: Chiara Cognome: Falciani Email: send email Telefono: +39 577 17816 Fax: +39 577 1781680	IT (SIENA)	participant	149˙960.00
25	ASSISTANCE PUBLIQUE - HOPITAUX DE PARIS Organization address address: 3 Avenue Victoria city: PARIS postcode: 75004 contact info Titolo: Ms. Nome: Alix Cognome: Pillot Email: send email Telefono: 33140274613 Fax: 33144841788	FR (PARIS)	participant	149˙640.00
26	UNIVERSITY OF NEWCASTLE UPON TYNE Organization address address: Kensington Terrace 6 city: NEWCASTLE UPON TYNE postcode: NE1 7RU contact info Titolo: Ms. Nome: Aleona Cognome: Blinova Email: send email Telefono: +44 191 2824528 Fax: +44 191 2824524	UK (NEWCASTLE UPON TYNE)	participant	149˙592.00
27	KATHOLIEKE UNIVERSITEIT LEUVEN Organization address address: Oude Markt 13 city: LEUVEN postcode: 3000 contact info Titolo: Ms. Nome: Sarah Cognome: Malevé Email: send email Telefono: +32 16 3 20611 Fax: +32 16 3 26515	BE (LEUVEN)	participant	49˙998.00
28	Karlsruher Institut fuer Technologie Organization address address: Kaiserstrasse 12 city: Karlsruhe postcode: 76131 contact info Titolo: Ms. Nome: Natascha Cognome: Kindsvogel Email: send email Telefono: +49 721 608 25414 Fax: +49 721 608 25403	DE (Karlsruhe)	participant	2˙653.05

Mappa

Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

dismal rare combined agents syndrome description efficient patient dna fluid renal phenotypic throughput data therapeutic exome urine signatures amniotic significant sequencing biorepositories genes screening fluids life metabolome genetic clinical progress diseases risk diagnostic patients prognosis morphological technologies disorders prediction molecular strategies compound dependent vivo mutations integrate mechanisms body profiling models proteome disease kidney innovative vitro biomarkers tissue eurenomics

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.