Rate My Professor Stephanie Hughes

Professor Stephanie Hughes is a professor in the Department of Biochemistry, Faculty of Biomedical Sciences, at the University of Otago. She earned her BSc (Hons) and PhD from Victoria University of Wellington, completing the latter in 1999 with a thesis on the molecular pathology of subunit c storage in neuronal ceroid lipofuscinoses, a form of Batten disease. After her PhD, she pursued postdoctoral research at the University of Iowa, focusing on gene therapy for genetic disorders using viral vectors. She subsequently worked at the University of Auckland before joining the University of Otago in 2008 as a research group leader. Promoted to full professor in 2023, she currently directs the Otago Brain Health Research Centre and the RARITY Otago research theme on rare diseases.

Hughes' research centers on the molecular and cellular mechanisms of neurodegenerative diseases, with a particular emphasis on lysosome dysfunction and its role in disease processes. Her Neurodegenerative and Lysosomal Disease Laboratory investigates Batten disease, a group of fatal childhood neurodegenerative disorders caused by mutations in CLN genes, developing gene therapies tested in cell models, mice, sheep, and now in human clinical trials for CLN5 Batten disease in collaboration with Lincoln University. The lab also employs human iPSC-derived neurons to study Alzheimer's disease and screen potential therapeutics, including gene delivery of sAPPα for neuroprotection. Key publications include her co-edited volume Lysosomes: Methods and Protocols (Springer, 2026), chapters on lysosome trafficking and health assessment (2026), and a paper on virus-mediated gene transfer in Alzheimer's models (He et al., Gene Therapy, 2026). In 2025, she was awarded the inaugural Rare Disorders Research Award by Rare Disorders NZ for her contributions to research, outreach, and family support. Her work receives funding from Cure Kids New Zealand, the Neurological Foundation, Health Research Council of New Zealand, and others.