Rate My Professor Stephanie Hughes

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.