Katherine Bull

Katherine 2017

The Genetic and Functional Basis of Proteinuric Kidney Disease 

Katherine Bull is an MRC Clinician Scientist and works in the Centre for Cellular and Molecular Physiology with Richard Cornall


Research Areas

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. 

 

Key Collaborations 

healthy Pod EM

Prof Moin Saleem, University of Bristol 

Dr Rachel Lennon, Wellcome Trust Centre for Matrix Research, University of Manchester

 

Key Publications 

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.