After undertaking my PhD in nutritional science at King’s College London, I joined Professor Holm Uhlig’s lab in August 2022. I am currently funded by Helmsley Charitable trust, and co-supervised by Professor Holm Uhlig and Professor Fiona Powrie. My research currently involves 2 projects, both of which are rare monogenic paediatric inflammatory bowel disease (IBD).
My focus investigates a spectrum of GP130-associated Mendelian diseases. Mutations of GP130 (encoded by IL6ST) cause distinct and extreme clinical phenotypes, especially the Hyper IgE Syndrome. However, we detected some patients with GP130 mutations presenting the IBD symptoms. We use these Mendelian disorders to define genotype-phenotype associations, where we investigate its functional impact on GP130-depdenent cytokine signalling pathways and relate those to clinical phenotypes. Furthermore, we collaborate with biologists in mouse genetics to more comprehensively understand how mutations can explain functional consequences for each unique mutation. These phenotypes inform on differential contribution of GP130-dependent cytokines and understand GP130 as a potential drug target.
The second project aims to investigate NFkB1 mutation resulting in the sever IBD. Different NFkB1 mutations cause impact in the specific cell types. We aim to understand how different types of cells response to the specific NFkB1 mutation.