Background: Dementia affects an estimated 353,800 Australians, with up to 80% being diagnosed with Alzheimer’s disease (AD). Despite a major research effort, an effective treatment is not available. The pathogenic process of AD begins decades prior to the clinical onset, so it is likely that treatments need to begin early in the disease process to be of benefit.
Aim: To use known genetic and epigenetic risk factors to identify those at a high risk of developing AD, where a high proportion of individuals will be in a prodromal stage of AD.
Approach: To build on our current work using genetic risk prediction to identify individuals who are at high risk of AD, a subset of which will be in a prodromal disease stage. To investigate both common and rare AD genetic risk factors and test for associations with extensive phenotypic data including neuroimaging and blood based methylation markers. Our group has access to large highly phenotyped cohorts spanning different ages and stages of dementia, including PISA (the Prospective Imaging Study of Ageing: Genes, Brain and Behaviour) based at QIMR Berghofer.
Outcome: The identification of individuals at high risk of Alzheimer’s disease will provide: 1) important insights into mechanisms of AD development throughout the life span; 2) the opportunity to investigate prodromal markers, and allow selection of individuals for early treatment strategies.
Suitable background: Background in genetic epidemiology, statistics and bioinformatics. Experience in working with neuroimaging, DNA methylation or whole genome/exome sequence data also desirable.