Contact Details
Room 502A
Discipline of Pathology
5th Floor, Blackburn Building, D06
University of Sydney, NSW, 2006
Telephone: +61 2 9351 3318
Fax: +61 2 9351 3429
Email: rogerp@med.usyd.edu.au

Professional Biography

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Research Interests
A/Prof Pamphlett's research concentrates on finding the cause of motor neuron disease (MND), also known as amyotrophic lateral sclerosis, or ALS. In MND the nerve cells that control muscle movement die, leading to progressive weakness. The disease usually affects people in middle age and causes death in about 3-5 years. 1,200 people in Australia are thought to suffer MND at any one time. No effective treatment is available.

A/Prof Pamphlett is exploring novel genetic mechanisms that could explain why MND is usually only affects only one member of a family. This search is particularly important now that new methods of gene therapy are being found to be effective in models of MND. Hypotheses being explored are:

1. MND is caused by a genetic susceptibility to an environmental agent, such as a heavy metal or a virus. The group has set up an Australia-wide DNA Bank to enable this and other groups to look for susceptibility genes in MND. People both with and without MND give blood samples to the Bank and fill in a questionnaire about environmental exposures. Over 1,000 DNA samples are currently in this Bank.
   For more information about the Australian MND DNA Bank please phone 02 9036-5456, email dnamnd@med.usyd.edu.au or log in to www.dnamnd.med.usyd.edu.au
2. MND is caused by a genetic differences that occurs in the central nervous system only. This could be either a gene mutation in the CNS or because a gene in the CNS has been abnormally silenced. To investigate these possibilities a brain and spinal cord tissue bank has been set up. Collaborations are also in place with MND tissue banks in Victoria and South Australia to obtain this tissue for research. For more information about the MND Tissue Bank please phone 02 9351-2410, or log in to www.braindonors.org
   Data is being collected on individual genes that may be involved in MND, as well as on the whole genome using gene chips. Analysis of DNA data takes place in the Stacey MND Genome Laboratory.

Click here for more detailed research information

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Research Student Supervision

Current Students
Postgraduate

• Ms Natasha Luquin

USydMP Honours:

• Meenachi Vendesan
• Rebecca Saunderson
• Gila Lepar

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'Top 10' Publications

• Morahan, JM, Pamphlett R. Amyotrophic lateral sclerosis and exposure to environmental toxins: an Australian case-control study. Neuroepidemiology 2006: accepted.
• Saunderson R, Yu B, Trent RJ, Pamphlett R. An analysis of the enteroviral-binding domains of intercellular adhesion molecule-1 and coxsackie-adenovirus receptor in motor neuron disease. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 2006: accepted
• Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson R, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ. Denaturing high performance liquid chromatography. High throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neuron disease. Journal of Clinical Pathology 2005; 58:479-85.
• Pamphlett R, Kum Jew S, King NJC. Flaviviruses in motor neuron disease. Muscle and Nerve 2005; 32:108-9.
• Pamphlett R, Heath PR, Holden H, Ince PG, Shaw PJ. Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons. Journal of Neuroscience Methods 2005; 147:65-67.
• Pamphlett R, Eide R, Danscher G. Does selenium deficiency unmask mercury toxicity in motor neurons? Neurotoxicology and Teratology 2005; 27:241-244.
• Morahan J, Trent RJ, Yu B, Pamphlett R. Screening the metallothionein III gene in sporadic amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 2005; 6:115-117.
• Saunderson R, Yu B, Trent RJ, Pamphlett R. A polymorphism in the poliovirus receptor gene differs in motor neuron disease. NeuroReport 2004; 15:383-386.
• Pamphlett R. Somatic mutation: a cause of sporadic neurodegenerative diseases? Medical Hypotheses 2004; 62:679-82
• Pamphlett R, Todd E, Vink R, McQuilty R, Cheema SS. Magnesium supplementation does not delay disease onset or increase survival in a mouse model of familial ALS. Journal of the Neurological Sciences 2003; 216:95-8.
• Pamphlett R, Kum-Jew S. Zinc in the spinal cord of a mutant SOD1 mouse model of ALS. NeuroReport 2003; 14:547-549.

For access to a full list of publications, please go to PubMed and search for “pamphlett”

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Teaching Interests
A/Prof Pamphlett teaches medical students in the University of Sydney postgraduate medical program. He covers diseases of the nervous system in lectures, tutorials and practical sessions with an emphasis on disease pathogenesis. He also teaches clinical neurology to medical students. He is currently chair of the neuroscience teaching block in the graduate medical program. He has written a number of articles on teaching and assessing medical students. In 2005 he was awarded Vice-Chancellor’s and Medical Faculty Awards for undergraduate teaching.

He also teaches postgraduate neuropathology to specialist registrars throughout the year and during an annual postgraduate neuropathology course.

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