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Renal Disease (RUMP?)

Renal Disease (RUMP?). Robert Unwin University College London Matthew Bailey The University of Edinburgh. Network Rationale. ~ 10% of the UK population have chronic kidney disease (33% in over 65s) Congenital renal disease in childhood

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Renal Disease (RUMP?)

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  1. Renal Disease(RUMP?) Robert Unwin University College London Matthew Bailey The University of Edinburgh

  2. Network Rationale • ~10% of the UK population have chronic kidney disease (33% in over 65s) • Congenital renal disease in childhood • Increasing prevalence with rise in diabetes and metabolic disorders • Cyst disease main genetic cause of renal failure

  3. Network Rationale • Human and economic burden large and often underestimated • Complex structure/function relationships • Renal phenotyping technically difficult • Time consuming and costly • Few Specialist Laboratories

  4. We are: Clinical Scientists Physiologists Anatomists Human & Rodent Genetics Network overview Glomerular Glomerular Glomerular: Bristol, Cambridge, Edinburgh, Imperial, Harwell, Oxford, UCL, Zurich Tubular: Cambridge, Edinburgh, Naples, Oxford, UCL, Zurich, Paris Renal Disease Renal Disease Development: Edinburgh, Harwell, Manchester, UCL Tubular Tubular Development Development Cystic: Oxford, UCL, Naples, Zurich, Paris Cystic Cystic

  5. Network Activities • Meeting in mid-April 2012 (London) • Theme Leaders • SOP for sample handling • Curation (GUDMAP) • Universal secondary screen or hypothesis-driven • Discussion of gene selection

  6. Universal secondary screens • Radiotelemetry • GFR in conscious mice • Signal processing (Informatics) of Blood Flow • Complementary in vitro screen (Oocytes) • Image-based screening (sMRIfMRI) • Specialist urine analysis

  7. Discussion points • Urine/tissue from primary screen • Universal secondary screen desirable • Identification of Epistasis • Expensive (Strategic funding) • EP7 Rare Diseases and Omics- EURENOMICS • Hypothesis-lead screening • Theme-based genes of interest • Incorporated into response mode function • Potentially less power for identifying novel function

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