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WA researchers contribute to rare disease biomarker discovery

02/04/24 - Researchers from Western Australia’s Perron Institute have contributed to this investigation of an inflammatory disease which damages the myelin that insulates the nerves of the central nervous system (brain, spinal cord and optic nerves). 


Damage to myelin causes disruption in the transmission of nerve signals in the body and a variety of symptoms. The disease studied in this recent research and sometimes misdiagnosed as MS is called myelin oligodendrocyte antibody-associated disease (MOGAD).  


In adults it can cause eye pain and loss or blurring of vision (optic neuritis) and weakness caused by spinal cord inflammation (transverse myelitis), among other symptoms. In children, it more commonly attacks the brain, resulting in symptoms such as confusion, lack of coordination, double vision, nausea and vomiting. 


Clinical Professor Allan Kermode, Head of Demyelinating Diseases Research from the Perron Institute and the Centre for Molecular Medicine and Innovative Therapeutics (CMMIT) at Murdoch University, and Perron Institute and CMMIT MS researcher Dr Marzena Fabis-Pedrini contributed to the collaborative study published in the Journal of Neurology, Neurosurgery and Psychiatry.  


“While some patients experience only one episode of the disease, about 40 per cent of adults and 30 per cent of children experience a relapse within five years of disease onset, Professor Kermode said. 


“Identifying patients who are at risk of relapse as early as possible could aid their specialised management while avoiding unnecessary immunosuppression in patients likely to experience only one episode of the disease.  


“This could minimise disability and improve long-term outcomes.” 


The paper involved a collaboration with many national institutions including the Children’s Hospital at Westmead, Sydney and the University of Sydney as lead institutions, led by senior author, Professor Fabienne Brilot-Turville.


L-R Professor Allan Kermode and Dr Marzena Pedrini

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