Monogenic Parkinson’s Disease Australia Initiative (MonoPDAus Initiative) - towards a precision medicine approach

Rare familial (monogenic) Parkinson’s disease affects 0.1% of the population. This study, the Monogenic Parkinson’s Disease Australia Initiative (MonoPDAus Initiative), will enable earlier and more efficient genomic diagnosis of monogenic PD using an advanced whole genome sequencing pipeline and the statistical power of large datasets. Currently, there is limited evidence for the role of genetic testing, the diagnostic rates are low, the clinical implications are unclear, and there is no Australian registry incorporating genetic testing results. This project will improve the diagnostic rate, refine genotype-phenotype correlations and response to treatment, evaluate the benefits of genetic testing, and result in a well genotyped and phenotyped cohort of monogenic PD patients. Genetic results will be entered into a patient registry to ensure Australia is clinical trial ready.