1 / 7

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

ivana
Download Presentation

Renal Disease (RUMP?)

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related