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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

Renal Disease(RUMP?)

Robert Unwin

University College London

Matthew Bailey

The University of Edinburgh

network rationale
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 rationale1
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

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

network activities
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
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
discussion points
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