DrGonzalo Perez-Siles

My research at the Northcott Neuroscience Laboratory, ANZAC Research Institute focuses on understanding the underlying pathogenic biology causing inherited peripheral neuropathies (IPNs). Specifically, my work aims to create relevant cell and animal models for developing treatment therapies for IPNs. As a Postdoctoral Fellow, I lead the mouse and the cell biology program at the Northcott Neurobiology Laboratory. My research interests or areas of expertise include:

- Developing animal models for the study of axonal degeneration in IPNs. I have recently completed the characterization of a conditional knock mouse to model X-linked distal hereditary motor neuropathy, dHMNX. This mouse model allows investigation of the subtle defects in copper metabolism and transport within the nervous system.

- Cell biology and molecular biology: the use of patient derived fibroblasts constitutes a fundamental aspect of my research. In particular, my investigations using primary fibroblasts from Charcot Marie Tooth type X6 (CMTX6) patients highlights a potential target for therapeutic intervention and treatment of this disease. I am responsible of implementing induced pluripotent stem cell (iPSC) technology in our laboratory. We are using this technology to differentiate patient motor neurons harbouring the disease causative mutations (CMTX6 and other IPNs) to generate human neuronal models for these diseases.

- I have a great interest for teaching new staff and co-supervising postgraduate students. In the last 5 years, I have participated in officially supervising 10 students including Honours, Masters and PhD students from The University of Sydney, UTS and International students.