About Professor Garth Nicholson

Garth's research focus is on discovering new genes and mechanisms in disorders of spinal cord and peripheral nerve.

Professor Garth Nicholson is a world leader in the molecular genetics of human hereditary neuropathies.

Professor Garth Nicholson is a world leader in neurogenetics having identified the genes for several neuromuscular disorders. Building on a career of groundbreaking work on the molecular genetics of human hereditary neuropathies, Prof Nicholson’s research group has recently discovered new genes and possible new mechanisms in disorders of spinal cord and peripheral nerve. His research has lead to a new approach to the treatment of the musculoskeletal complications of these disorders.  He has established regional facilities for the investigation, management and research into neurogenetic disorders. These include the Neurogenetics Clinic and the Molecular Medicine diagnostic laboratory, both located at Concord Hospital, as well as the Northcott Neuroscience Laboratory at the ANZAC Research Institute. In 1997 Prof Nicholson’s laboratory mapped and identified the causative gene for hereditary sensory neuropathy type I (HSN1). His group showed that a mutation in the gene encoding the enzyme SPTLC1 causes HSN1. His laboratory showed that the mutation causes the disease by a gain of toxic function, not by loss of enzyme activity. In 2003 the group mapped the gene locus for another dominant neuropathy, hereditary sensory neuropathy with gastroesophageal reflux and cough. In 2001 Prof Nicholson’s laboratory identified another locus for a new form of dominant intermediate CMT (DI-CMTB). In 2004 his group showed that the gene mutation for DI-CMTB is in the Dynamin2 gene, in collaboration with J Vance, Duke University. In collaboration with Prof Robinson’s group at the Children’s Medical Research Institute, Westmead where cell biological studies have suggested a possible new mechanism of peripheral nerve disease. Prof Nicholson’s research group, now located in the ANZAC Research Institute, has identified new forms of motor neuropathy and motor neuron disorders. This research is made possible by the existence of the familial motor neuron disease (FMND) database maintained by Prof Nicholson. This is a key resource for finding gene mutations causing FMND, which includes over 100 families under active investigation. At a clinical level, the group carried out the first study of the development of motor neurone disease by serially examining subjects at risk of FMND. His group were the first to show that neuronal death in MND is suddenly triggered in carriers of SOD1 mutations. This work has since been recognised as one of the key new developments in MND research. His group has published nine papers on FMND and many more on other degenerative disorders of motor and sensory neurones.

Selected publications

For a comprehensive list of Professor Nicholson's publicatons, please visit his Sydney Medical School profile page.