Sydney Neuropathy Research Group (SyNRG)

Inherited neuropathy or Charcot-Marie-Tooth disease (CMT) has a prevalence of 1 in 2500 individuals. In addition, there are a number of spinal cord and brain disorders that have associated peripheral nerve dysfunction. CMT results in difficulty with activities of daily living and loss of ambulation, hand and foot deformity requiring surgery, and sensory loss. Neuropathies affecting the brain can result in disorders of development and learning. While there have been significant advances in understanding the genetic basis of CMT, with 80 genes identified to cause CMT and related disorders, ~40% of CMT remains genetically unclassified. While a number of interventions and therapies have shown promise in CMT, trialling them in humans requires a coordinated multi-disciplinary approach across a number of sites.

SyNRG members are leaders in the clinical care of, and research into, inherited neuropathies. The group includes experts in the area of adult and paediatric neurology and neuromuscular medicine, orthopaedics, neurophysiology, peripheral nerve histopathology, molecular genetics, physiotherapy and podiatry. We have a specific research focus on the assessment and monitoring of individuals with inherited neuropathy, neurophysiological studies including novel nerve excitability studies, gene discovery and the development of new molecular diagnostic methods using next generation sequencing and bioinformatics, histopathology and the design and conduct of clinical trials. The group members also supervise the care of children and adults with CMT at three adult clinics across Sydney and two paediatric tertiary neuromuscular clinics.

Convenors:
Dr Manoj Menezes THE CHILDREN'S HOSPITAL AT WESTMEAD
Prof Joshua Burns HEALTH SCIENCES

Members:
Dr Michelle Farrar, UNSW Medicine
Dr Paul Gibbons MEDICINE
A/Prof Marina Kennerson MEDICINE
Prof Matthew Kiernan MEDICINE
Prof Garth Nicholson MEDICINE
Prof Robert Ouvrier MEDICINE
CONCORD HOSPITAL and BMRI
Hugo Sampaio, UNSW Medicine
Dr Amy Sman HEALTH SCIENCES
A/Prof Steve Vucic MEDICINE

If you would like to join the Neuropathy affinity group, please contact