Kids Neuroscience Centre

Kids Neuroscience Centre investigates causes, consequences and therapies for specific inherited disorders such as the muscular dystrophies, peripheral neuropathies and neurofibromatosis type 1, as well as acquired neurological diseases, such as multiple sclerosis and autoimmune movement disorders.

We integrate our clinical and laboratory research with the thousands of children who visit the hospital. This makes our research directly relevant to patients.

We operate a research-based diagnostic service that is closely aligned to the Neurogenetics Clinical Service,  a multi-disciplinary team involving medical specialists, genetic counsellors, physiotherapists, occupational therapists and psychologists, who care for over 1200 patients and their families. These children can access the latest treatments by participating in clinical trials and the diagnostic service provides families with accurate diagnosis and disease-specific treatment.

Led by Professor Russell Dale, Kids Neuroscience Centre has eight distinct research programs.

Visit  http://kidsneuroscience.org.au to find out more

Please contact Leigh Waddell for general enquiries: leigh.waddell@health.nsw.gov.au 

Research interests

Brain Autoimmunity - Aims to understand the role played by autoantibodies in neurological diseases including Autoimmune Encephalitis, demyelinating syndromes, movement disorders and early-onset psychosis.

Clinical Neuroimmunology - Aims to define the clinical features and best treatment of immune mediated brain conditions, including autoimmune encephalitis, autoimmune movement disorders and the immune contribution of common disorders such as epilepsy and neuropsychiatric conditions such as tics and obsess-compulsive disorder.

Clinical Trial and Clinical Research - Provides an interface between clinical care and scientific research for a range of conditions that affect the brain, nerve and muscle.

Disease Mechanisms and Therapies - Uses models to unlock the mechanisms causing nerve and muscle disorders to inform evidence-based therapies.

Epilepsy and Movement disorders - Explores clinical care and research in complex epilepsy, epilepsy genetics and epilepsy surgery, and in movement disorders undertakes research in Tourette Syndrome and genetic dystonia. This includes collaboration in gene discovery projects and deep brain stimulation.

Neurofibromatosis Type 1 (NF1) - Focuses on the cognitive, psychosocial and learning aspects of children and adolescents with NF1.

Neuromuscular Gene Discovery -  Translates the latest innovations in genomics to provide families with a precise genetic diagnosis, and identify novel genes causing disease.

Neuropathy - Aims to improve the lives of children with Charcot-Marie-Tooth disease through effective clinical trials.

The research team

To find out more about the research group members, please click on the links below to be directed to the Kids Neuroscience website.

Brain Autoimmunity – The brain autoimmunity group is led by Associate Professor Fabienne Brilot-Turville.

Clinical Neuroimmunology – the clinical neuroimmunology group is led by Professor Russell Dale.

Clinical Trial and Clinical Research – the clinical research group is led by Associate Professor Kristi Jones.

Disease Mechanisms and Therapies – the disease mechanisms and therapies group is led by Associate Professor Sandra Cooper.

Epilepsy and Movement disorders – the epilepsy and movement disorders group is co-led by Dr Deepak Gill (epilepsy) and Professor Russell Dale (movement disorders)

Neurofibromatosis Type 1 (NF1) – the NF-1 group is led by Dr Belinda Barton.

Neuromuscular Gene Discovery -  the gene discovery group is led by Associate Professor Sandra Cooper.

Neuropathy – the neuropathy group is co-led by Dr Manoj Menezes and Professor Josh Burns.

Key publications

Panosyan, F., Laura, M., Rossor, A., Pisciotta, C., Piscosquito, G., Burns, J., Li, J., Yum, S., Lewis, R., Day, J., et al (2017). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology, 89(9), 927-935

Wojciechowski, E., Sman, A., Cornett, K., Raymond, J., Refshauge, K., Menezes, M., Burns, J., Cooper, S., North, K., Sandaradura, S., O'Grady, G. (2017). Gait patterns of children and adolescents with Charcot-Marie-Tooth disease. Gait and Posture

Harris, E., Bladen, C., Mayhew, A., James, M., Bettinson, K., Moore, U., Smith, F., Rufibach, L., Cnaan, A., Jones, K., et al (2016). The Clinical Outcome Study for dysferlinopathy: An international multicenter study. Neurology. Genetics, 2(4), 1-10

Cornett, K., Menezes, M., Bray, P., Halaki, M., Shy, R., Yum, S., Estilow, T., Moroni, I., Foscan, M., Pagliano, E., Burns, J., et al (2016). Phenotypic variability of childhood Charcot-Marie-Tooth disease. JAMA Neurology, 73(6), 645-651

Mulroy, E., Ghaoui, R., Hutchinson, D., Rodrigues, M., Lek, M., MacArthur, D., Cooper, S., Clarke, N., Roxburgh, R. (2017). A 'limb-girdle muscular dystrophy' responsive to asthma therapy. Practical Neurology, 17(4), 327-331.

Cooper, S. (2017). Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair. Science Signaling, 10(495), 1-3.

Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D., Davis, M., Laing, N., Clarke, N., Burns, J., Cooper, S., Sandaradura, S., O'Grady, G., et al (2017). Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. Genomic Medicine, 2(4), 1-7.

Piper, A., Ross, S., Redpath, G., Lemckert, F., Woolger, N., Bournazos, A., Greer, P., Sutton, R., Cooper, S. (2017). Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling. Cellular Signalling, 33, 30-40.

Gascoigne, M., Smith, M., Barton, B., Webster, R., Gill, D., Lah, S. (2018). Accelerated long-term forgetting and behavioural difficulties in children with epilepsy. Cortex.

Chen, K., Didsbury, M., van Zwieten, A., Howell, M., Kim, S., Tong, A., Howard, K., Nassar, N., Barton, B., Lah, S., Lorenzo, J., Strippoli, G., Teixeira-Pinto, A., Craig, J., Wong, G., et al (2018). Neurocognitive and Educational Outcomes in Children and Adolescents with CKD: A Systematic Review and Meta-Analysis. Clinical Journal of the American Society of Nephrology, 13(3), 387-397.

Ramanathan, S., Mohammad, S., Tantsis, E., Nguyen, T., Merheb, V., Fung, V., White, O., Broadley, S., Lechner-Scott, J., Vucic, S., Henderson, A., Barnett, M., Reddel, S., Brilot-Turville, F., Dale, R. (2018). Clinical course, therapeutic responses and outcomes in relapsing MOG antibody-associated demyelination. Journal of Neurology, Neurosurgery and Psychiatry, 89(2), 127-137.

Waak, M., Mohammad, S., Coman, D., Sinclair, K., Copeland, L., Silburn, P., Coyne, T., McGill, J., O’Regan, M., Selway, R., Dale, R., et al (2018). GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, 89(2), 221-222.

Mohammad, S., Dale, R. (2018). Principles and approaches to the treatment of immune-mediated movement disorders. European Journal of Paediatric Neurology, 22(2), 292-300.

Graham, D., Gill, D., Dale, R., Tisdall, M. (2018). Seizure outcome after corpus callosotomy in a large paediatric series. Developmental Medicine and Child Neurology, 60(2), 199-206.

Weissert, R., Brilot-Turville, F. (2017). Editorial: Induction of central nervous system disease by the adaptive immune response. Frontiers in Immunology, 8(1218), 1-2.

Pilli, D., Zou, A., Tea, F., Dale, R., Brilot-Turville, F. (2017). Expanding Role of T Cells in Human Autoimmune Diseases of the Central Nervous System. Frontiers in Immunology, 8, 1-17.

Chen, K., Brilot-Turville, F., Dale, R., Lafferty, A., Andrews, P. (2017). Hashimoto's encephalopathy and anti-MOG antibody encephalitis: 50 years after Lord Brain's description. European Journal of Paediatric Neurology, 21(6), 898-901.