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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.

Our team