I am an academic clinician. As an honorary consultant nephrologist I see patients at the Oxford Kidney Unit, based at the Churchill Hospital in Oxford. I have a particular interest in inherited renal disease, and also see patients with metabolic kidney disease and renal stones.
The Genetic and Functional Basis of Proteinuric Kidney Disease
Proteinuria is a hallmark of many kidney diseases and indicates glomerular dysfunction, and in particular disorders of podocyte cells, a key component of the glomerular filtration barrier.
To develop more effective, targeted treatments for kidney disease we need to link genetic insights to functional understanding at the cellular level. By developing better in vitro and in vivo models using CRISPR/Cas9 technology our work aims to develop a generalisable approach to validate candidate novel disease genes from patients with severe nephrotic syndrome, and proteinuric patients from the 100,000 genomes project. We use standard molecular biology techniques, cellular assays, immunofluorescence, flow cytometry, genomic and transcriptomic analyses to explore and understand underlying glomerular disease mechanisms at the cellular level.
Prof Richard Cornall, University of Oxford
Prof Moin Saleem, University of Bristol
Dr Rachel Lennon, Wellcome Trust Centre for Matrix Research, University of Manchester
Prof John Todd, University of Oxford
Bull, KR, Mason, T, Rimmer, AJ, Crockford, TL, Silver, KL, Bouriez-Jones, T, Hough, TA, Chaudhry, S, Roberts, IS, Goodnow, CC and Cornall, RJ. 2014, Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome, The Journal of pathology, 233, (1), John Wiley & Sons, Ltd, pp. 18–26.
Bull, KR, Rimmer, AJ, Siggs, OM, Miosge, LA, Roots, CM, Enders, A, Bertram, EM, Crockford, TL, Whittle, B, Potter, PK et al 2013, Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations, PLoS Genet, 9, (1), Public Library of Science, p. e1003219.
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