Obiettivo
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.
Campo scientifico
Argomento(i)
Invito a presentare proposte
FP7-HEALTH-2012-INNOVATION-1
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Meccanismo di finanziamento
CP-IP - Large-scale integrating projectCoordinatore
69120 Heidelberg
Germania
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Partecipanti (28)
75654 Paris
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8006 Zurich
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20156 Milano
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3584 CX Utrecht
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46109 1274 Ann Arbor
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06800 Cankaya Ankara
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BS8 1QU Bristol
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6525 XZ Nijmegen
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M13 9PL Manchester
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WC1E 6BT London
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28006 Madrid
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NE1 7RU Newcastle Upon Tyne
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75012 Paris
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07745 Jena
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3000 Leuven
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90014 Oulu
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80335 Muenchen
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SW7 2BP LONDON
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2845 NIEL
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53100 Siena
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8112 Otelfingen
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69120 HEIDELBERG
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30659 Hannover
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Partecipazione conclusa
80333 Muenchen
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Partecipazione conclusa
76131 Karlsruhe
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80539 Muenchen
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75179 Pforzheim
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9140 TEMSE
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