Project 13

Rare Kidney Diseases Consortium

“EURenOmics”: European Consortium for High-Throughput Research in Rare Kidney Diseases.

EU FP7 Collaborative Project. Manchester is one of 26 Renal Research Centres across Europe collaborating in this 12 Million euro project from 2012-2017.

Prof Brenchley is leading a Manchester team from MRI renal unit (including Shelley Harris, Dr Michael Venning, Dr Mumtaz Patel) and the University of Manchester (including Dr Tom Jowitt, Dr Edward Mckenzie, Dr Jennet Gummadova) in this exciting new pan European study of kidney disease across Europe.

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 as 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 to improve patient outcomes.