Nicholson, Garth Alexander

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MB BS 1967 PhD 1975 FRACP

On return to Sydney in 1979, Garth took up a position as Neurology Registrar at Concord and Prince Alfred Hospitals. In the early 1980s he established a molecular neurogenetic research laboratory as a NHMRC research fellow in the University of Sydney’s Department of Medicine in the Blackburn building. Garth focused his research on hereditary diseases of nerves (the most common cause of neuropathy, and the most common group of disorders presenting to genetics clinics), extending the earlier research in the department of Professor James McLeod on the pathology of hereditary neuropathies. Of this work, Garth says:

I take pride in the fact that my research opened up the area of hereditary disorders of peripheral nerve leading to a rewriting of medical texts. My original use of molecular methods to locate gene mutations causing peripheral nerve diseases catalysed interest in the area and advances which have already lead to new treatments, and has now given rise to the possibility of drug therapies.

In 1989 in a world first he and colleagues mapped the location of the mutation for the most common hereditary neuropathy, Charcot-Marie-Tooth (CMT1A) neuropathy to the proximal short arm of chromosome 17. The CMT program produced new probes relevant to the p53 tumour suppressor gene region on chromosome 17. This led to collaboration with the Department of Surgery at the University of Sydney to develop new methods for assessing the p53 locus region in relation to colorectal cancer metastasis. Similarly, the diagnostic service for Kennedy’s disease testing for androgen receptor repeat expansions, led to research in prostate cancer funded by the Department of Veterans’ Affairs.

Garth’s laboratory was also the first to map the genes for benign neonatal convulsions, hereditary sensory neuropathy (HSN1), HSN with gastroesophageal reflux and cough, intermediate CMT, two X-inked forms of CMT and a motor neuropathy. He and colleagues went on to discover the genes mutated in Charcot-Marie-Tooth (CMT) neuropathy type 1A (the myelin protein PMP22), pressure sensitive neuropathy (PMP22 truncations), hereditary sensory neuropathy type 1 (an enzyme, serine palmitoyl transferase) and in intermediate CMT (dynamin 2).

In 1991, Garth established a research and diagnostic laboratory at Concord Hospital. The Molecular Neurology Laboratory is the first and only comprehensive molecular diagnostic laboratory of its kind for neurological disorders in Australia.

Garth discusses the contributions he and his team have made:

As a result of our innovative research we can now define and treat diseases which were previously undefined and untreatable. As a direct result of our HSN work we are an international referral centre. Our expertise has been sought by physicians and families in France, Spain, Canada and the UK. Families in England and Australia afflicted with this disease now have healthy non-affected children as a result of testing in my diagnostic laboratory.
CMT1A is now recognised as one of the most common of human genetic disorders. Whereas before our research, CMT was a medical curiosity, was misdiagnosed and was poorly managed, our CMT program now offers accurate diagnosis, genetic counselling, antenatal testing, children’s pes cavus prevention program in association with the School of Physiotherapy University of Sydney, and a podiatry research and training program with Professor Kidd at the University of Western Sydney now transferred to the New Children’s Hospital at Westmead. We encouraged a new conservative foot surgery approach with the experience of Dr Grace Warren and train orthopaedic surgeons in the management of chronic neuropathic feet. We provide outreach-training seminars in other Australian capitals and NSW country centres.

As a result of these discoveries, Garth was instrumental in establishing the world’s first CMT support organisation as well as extending CMT clinics and outreach services for medical and paramedical personnel. These approaches were adopted in London, Oxford and across the USA.

Presently, Garth is assisting in establishing an international CMT support and research organisation.

Garth’s group has now mapped a total of eight disease-causing genes to chromosomal loci and the defective genes in four diseases. This research has been recognised by five papers in Nature Genetics and by over 1400 citations. International and lay recognition for these discoveries came when they were one of three Australian groups selected by the BBC for interviews in a new program on the human impact of the human genome project. Recently his research showed that motor neurone disease is suddenly triggered in carriers of the commonest mutation causing the disease. He has now established a research group to searching for new susceptibility genes for motor neurone disease .

He was appointed Associate Professor in the Department of Medicine in 1993 and Professor in 2003. In 2003, Garth has established an initiative between the ANZAC Research Institute and the University of Istanbul to develop the ANZAC and University of Istanbul PhD scholarship appeal to commemorate the loss of the Medical Year class of the University of Istanbul on 19 May 1915.

Garth is presently Professor of Neurogenetics at the University of Sydney.

Citation: Mellor, Lise (2008) Nicholson, Garth Alexander. Faculty of Medicine Online Museum and Archive, University of Sydney.

An alternate version appears in: Mellor, L. 150 Years, 150 Firsts: The People of the Faculty of Medicine (2006) Sydney, Sydney University Press.