Parkinson’s disease, the second most frequent neurological disorder after Alzheimer’s, is mostly sporadic but in about 14 per cent of cases overall, it is monogenetic – caused by a mutation in a single inherited gene.
Western Australian researchers are participating in a national study of monogenetic forms of this disorder, led by Neurosciences Research Australia and the Garvan Institute. Other organisations involved include the University of New South Wales, University of Sydney, Macquarie University and Perron Institute.
Professor Sulev Koks, Head of Genetic Epidemiology Research at the Perron Institute and Centre for Molecular Medicine and Innovative Therapeutics at Murdoch University, is jointly leading the WA research with Perron Institute Clinical Neurologist Dr Wayne Yau.
“The study sets out to develop a comprehensive characterisation of monogenetic Parkinson’s in Australia,” Professor Koks said. “The focus is on improving diagnosis, achieving better understanding of disease characteristics, and progression and assessing the cost effectiveness of genomic testing.
“Establishing an Australian monogenetic Parkinson’s patient registry that will enable rapid recruitment to future clinical trials is another aim,” Professor Koks said.
The Monogenetic Parkinson’s Disease Australian Initiative, funded by the Australian Government’s Medical Research Future Fund, harnesses the broad reach of the Australian Parkinson’s Genetic Study (APGS) and the sequencing power of the Global Parkinson’s Genetics Program.
APGS participants with early-onset or familial PD will be offered participation in the study, supplemented by direct recruitment which is already underway.
A poster on the Monogenetic Parkinson’s Disease Australian Initiative was presented at the Annual Scientific Meeting of the Australian and New Zealand Association of Neurologists in Adelaide.