Background
The Gissen group use cell and molecular biology approaches to investigate rare genetic disorders with a focus on abnormalities of intracellular trafficking and develop novel therapies to treat these disorders.
Our long-standing interest is in understanding the mechanism of function of a multi-protein tethering complex containing VPS33B and VIPAR. Defects in these two proteins cause a multi-system human disorder Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome (ARC). For this work and other studies we employ cell and animal models of human disease including patient-derived induced pluripotent stem cells (iPSc) that can undergo differentiation into a variety of highly specialised cell types.