University of South Australia
Emma has an interest in two areas of health and medical research, the structure and function of proteins and the pathogenesis of disease. Linking these two research areas has allowed her to focus on the mechanisms of disease in a group of genetic disorders called lysosomal storage disorders.
Lysosomal storage disorders are a group of over 50 different devastating genetic diseases, each involving a defect in lysosomal function that is typically caused by having either an inactive or deficient enzyme. These disorders predominantly occur in children, although some adults may also be affected.
Emma is specifically investigating whether the storage of waste products alters the movement of lysosomes and other specialised compartments within neurons (a subset of cells found within the brain). This research therefore addresses the important question of how lysosomal storage causes brain disease and is aimed at devising an appropriate treatment strategy to prevent this disease process happening in patients.