Professor Stephanie Hughes

Research

Neurodegenerative and Lysosomal disease laboratory (NLD)

We are interested in the molecular and cellular processes in neurodegenerative disease, in particular how lysosome dysfunction influences disease processes. A better understanding of these processes helps us to develop relevant model systems in which we aim to find new therapeutic targets and test treatments.

Batten Disease

Developing models of childhood Batten disease

We work on a childhood brain disease called Batten disease. In Batten disease, the recycling machinery in neurons goes haywire, which leads to death of the neurons. We aim to understand what leads to the malfunctioning of the recycling system and how to rectify the faults, leading to treatment options that can rescue dying neurons. We use reprogrammed skin cells, which get differentiated into human neurons. Using these cells we take advantage of gene therapy techniques to manipulate gene expression and develop our models.

Indranil Basak, Postdoctoral fellow
Janet Boyu Xu, Postdoctoral fellow
Oluwatobi Eboda, PhD student
Jennifer Palmer, Honours student

Funded from Cure Kids New Zealand and the Neurological Foundation of New Zealand

Cellular waste disposal in brain diseases

The lysosome is essential for removing cellular waste and its dysfunction is a common feature of neurodegenerative diseases. When people think of the brain cells they think of neurons, but there are also the glial cells, commonly referred to as support cells, that play a critical role in neuronal health and activity. Through the use of animal models and cell lines our research aims to determine how glial lysosome function impacts neuronal health. In addition, we are screening drugs that work to enhance lysosome function in Batten disease and test new gene therapy strategies.

Lucia Schweitzer, Research fellow
Hollie Wicky, Assistant research fellow
Jasmine Lock, PhD student

Funded by the Health Research Council of New Zealand and the Charlotte and Gwyneth Gray Foundation Cure Batten, USA

Alzheimers Disease

We are interested in a protein called sAPPα which has memory enhancing, neurogenic and neuroprotective properties. Our research aims to increase our knowledge of its mechanisms of action, by identifying other genes and proteins that are involved in these processes. We hypotheise that sAPPα has therapeutic potential for Alzheimers disease.

Katie Peppercorn, PhD student (with Professor Warren Tate)

Gene therapy

We are establishing a new non-invasive treatment of Alzheimers disease (AD). Using peripheral gene therapy, we are focusing on treatments which cross the brain barrier more efficiently. Our aim is to reduce synaptic dysfunction and rescue spatial memory in peripherally gene therapy treated AD mouse models.

Sophie Mathiesen, PhD student (with Professor Cliff Abraham)
Yuanyuan (Emily) He, PhD student (with Professor Cliff Abraham)

Much of our work relies on gene therapy vectors such as lentivirus and adeno-associated virus, which we package in the Otago Viral Vector Facility with support from Brain Research New Zealand.

Kirstin McDonald, Assistant research fellow

Funded by the Health Research Council of New Zealand and Brain Research New Zealand