Adjunct Associate Professor
Michelle Lupton

Biography

My main area of expertise is genetics of Alzheimer’s disease (AD). I have a strong track record in GWAS and sequencing studies. I have contributed to the major discoveries in AD genetics of the past decade, including the identification of the first genome wide significant genetic risk variants outside of APOE, and the large scale AD GWAS meta-analyses. I had an active role in the discovery of TREM2, identified through exome sequencing to be a rare variant with a large effect size on AD risk. These studies identified pathophysiological pathways in AD, including highlighting inflammatory response as causative.

My previous work in AD cohort studies, and recent leading role in the PISA study (Prospective Neuroimaging Study of Aging) have, and will continue to greatly contribute to the identification of biomarkers for AD, including neuroimaging, neuropsychology and blood based markers. I am a chief investigator on a recently secured AU$4M grant to assemble the largest ever dementia research cohort in Australia with the aim to develop a blood biomarker test to predict onset and progression of cognitive decline in dementia (NHMRC Medical Research Future Fund). I am currently Identifying blood based methylation markers associating with prodromal AD, to identify a specific methylation patterns directly related to AD risk which could be used as a diagnostic AD biomarker in midlife. As part of the PISA study I have spearheaded the use of genetic risk prediction to identify those at a higher risk of AD and in a prodromal disease stage.

In addition, I have used the latest advances in genetic methods to use polygenetic risk score and Mendelian Randomisation (MR) approaches to assess causal inference in AD.