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  Increasing prevalence with rise in diabetes and metabolic disorders  Cyst disease main genetic cause of renal failure

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

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

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

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

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