Garth Nicholson
Professor
Medicine
University of Sydney
Australia
Biography
After graduating in Medicine and completing a PhD in protein biochemistry, Garth Nicholson undertook postdoctoral training in neurogenetics in the USA and England. On return to Sydney in 1979, he completed training as a Neurologist. As a research fellow in the University of Sydney’s Department of Medicine he established a molecular biology laboratory to apply the new techniques of molecular biology to map the chromosomal location of gene mutations causing hereditary neuropathies. At this time, little was known of their causes and no treatment programs existed. The laboratory initiated the first search for genes causing Charcot-Marie-Tooth (CMT) neuropathy in an early genome search using RFLP mapping probes, dividing work with colleagues at Duke University. The locus of CMT type 1A was found in 1989 on the proximal short arm of chromosome 17, a chromosome studied by the Duke group. This was the 13th human disease gene to be mapped by molecular techniques. In a Nature Genetics paper we showed that the PMP22 gene was included in a large DNA duplication which resulted from misalignment between 2 large flanking repeat regions. Our group (Kennerson et al. 1997) showed that these DNA repeats were duplicated in the evolution of higher primates, creating a new primate gene expressed in human and chimpanzee muscle and heart.
Research Interest
Finding genes causing diseases of nerve and brain, including peripheral nerve disorders and motor neurone diseases, spastic paraplegias, spinal muscular atrophies.
Publications
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Don, E., Formella, I., Badrock, A., Hall, T., Morsch, M., Hortle, E., Hogan, A., Chow, S., Gwee, S., Stoddart, J., Nicholson, G., et al (2017). A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative Disease. Zebrafish, 14(1), 69-72.
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Tsai, P., Soong, B., Mademan, I., Huang, Y., Liu, C., Hsiao, C., Wu, H., Liu, T., Liu, Y., Nicholson, G., Kennerson, M., et al (2017). A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain, 140(5), 1252-1266
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Fifita, J., Williams, K., Sundaramoorthy, V., McCann, E., Nicholson, G., Atkin, J., Blair, I. (2017). A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18(1-2), 126-133
