I joined the Cornall lab in 2010 to study for a DPhil (PhD), investigating the genetics of autoimmune and nephrotic disease. I am currently a Clinical Lecturer with an interest in the genetics of proteinuria.
Kidney protein leak independently predicts both renal and cardiovascular mortality, and pharmacological reduction of proteinuria is associated with slower renal disease progression. The genetic defects that underly rare familial proteinuric disorders provide insights into the maintenance of the renal filtration barrier, of relevance to complex renal disease. Most of these genes affect the function of podocytes, key cells maintaining selective permeability at the kidney glomerulus, but the known genes explain only two thirds of familial disease.
Current DNA sequencing techniques can generate many candidate disease genes for proteinuria, but to realise the potential for truly translational genomic medicine it is important to validate and prioritise candidate disease genes. By combining precise and efficient gene editing with CRISPR/ Cas9 technology to disrupt podocyte function and scalable high throughput screening tools I aim to identify novel proteinuria genes and potential therapeutic targets.
I am supported by the NDM, OUCAGS and an Academy of Medical Sciences Starter Grant.
I collaborate with Prof Moin Saleem at the University of Bristol