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 explore underlying disease mechanisms at the cellular level.
Prof Moin Saleem, University of Bristol
Dr Rachel Lennon, Wellcome Trust Centre for Matrix Research, University of Manchester
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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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