Research interests
Genetic and cellular basis of human immunological disease
Our laboratory operates within the Centre for Personalised Immunology. We operate at the interface between contemporary clinical practice and discovery, with overarching aims of improving diagnostic accuracy and devising more precise treatments through better understanding of disease mechanisms.
Characterising human genetic variation is a potentially powerful method for discovering mechanisms of disease. In some cases, a diagnosis of Mendelian disease can be made through WGS, and therefore we have implemented a diagnostic genomics service (Canberra Clinical Genomics). In other cases, whole genome sequencing identifies genetic variants that provide clues to mechanisms of disease. Our lab investigates the functional consequences of genetic variants using biochemistry and cellular immunology. In order to understand how genetically encoded changes in immunity cause pathology, we also develop bespoke models of human disease by engineering orthologous gene variants in mouse models using CRISPR/cas9. We have been applying this approach to many different types of immunological disease, but particularly primary antibody deficiency, autoimmunity and sarcoidosis.