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 the Helmsley Charitable Trust and co-supervised by Professor Holm Uhlig and Professor Fiona Powrie. My research currently is rare monogenic pediatric inflammatory bowel diseases (IBD).
My focus is to investigate a spectrum of GP130-associated Mendelian diseases. Mutations of GP130 (encoded by IL6ST) cause distinct and extreme clinical phenotypes, especially Hyper IgE Syndrome. However, we have detected some patients with GP130 mutations presenting IBD symptoms. We use these Mendelian disorders to define genotype-phenotype associations, where we investigate their functional impact on GP130-dependent cytokine signaling 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 the differential contribution of GP130-dependent cytokines and understand GP130 as a potential drug target.