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

RenalDisease

Glomerular

Tubular Development

Cystic

RenalDisease

Glomerular

Tubular Development

Cystic

Glomerular: 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 ScientistsPhysiologistsAnatomistsHuman & 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