Michelle Lupton

Associate Professor | Team Head

Michelle.Lupton@qimrberghofer.edu.au

RECENT PUBLICATIONS

1. Thienel, R., Borne, L. , Faucher, C. , Robinson, G.A., Fripp, J. , Giorgio, J.1, Ceslis, A., McAloney, K., Adsett, J. , Galligan, D., Martin, N.G., Breakspear, M. , Lupton, M. K Can an online battery match in-person cognitive testing in predicting age-related cortical changes? medRxiv 2023.04.24.23289014; doi: https://doi.org/10.1101/2023.04.24.23289014 * joint senior author

2. Gomez, L.M., Mitchell, B.L., McAloney, K., Adsett, J., Garden, G., Wood, M., Diaz-Torres, S., Garcia-Marin, L.M, Breakspear, M., Martin, N.G., Lupton, M.K. The effect of genetic predisposition to Alzheimer’s disease and related traits on recruitment bias in a study of cognitive ageing. Twin Res. Hum. Genet. 2023 Jul 21;1-6. doi: 10.1017/thg.2023.26. Online ahead of print

3. Thorp JG., Mitchell BK., Gerring ZF., Ong JS., Gharahkhani P., Derks EM., Lupton MK*. 2022. Genetic evidence that the causal association of educational attainment with reduced risk of Alzheimer’s disease is driven by intelligence. Neurobiology of Aging. 2022 Jul 2022 Jul 30;S0197-4580(22)00164-6. Online ahead of print. * joint senior author

4. Bellenguez C, Küçükali F, Jansen IE et al. New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat Genet, 2022 Apr;54(4):412-436.

5. Lupton MK, Robinson GA, Adam RJ, et al. A prospective cohort study of prodromal Alzheimer’s disease: Prospective Imaging Study of Ageing: Genes, Brain and Behaviour (PISA). Neuroimage Clin. 2021 29:102527.

6. Mitchell BL, Thorp JG, Evans DM, Nyholt DR, Martin NG, Lupton MK. 2020. Exploring the genetic relationship between hearing impairment and Alzheimer’s disease. Alzheimers Dement (Amst). 2020 Sep 25;12(1):e12108.

7. Lupton, M.K., Medland, S.E, Gordon, SD., Goncalves, T., MacGregor, S., Mackey, DA., Yong, TL., Duffy, LD., Visscher, PM., Wray, NR., Nyholt, DR., Bain L., Ferreira, MA., Henders, AK,. Wallace, L., Montgomery, GW., Wright, MJ., Martin, NG. 2018. Accuracy of inferred APOE genotypes, for a range of genotyping arrays and imputation reference panels. J Alzheimers Dis. 64(1):49-54.

8. Lupton, M.K., Benyamin, B., Proitsi, P. et al. 2017. No genetic overlap between circulating iron levels and Alzheimer’s disease. J Alzheimers Dis. 59(1):85-99

9. Lupton, M.K., Strike, L., Hansell, NK. et al. 2016. The effect of increased genetic risk for Alzheimer’s disease on hippocampal and amygdala volume. Neurobiology of Aging 40 68-77.

10. Lupton, M.K., Proitsi, P., Lin, K. et al. 2014. The Role of ABCA1 Gene Sequence Variants on Risk of Alzheimer’s Disease. J Alzheimers Dis 38(4) 897-906.

Complete publications and citation information can be accessed here: Pubmed | Google Scholar

CURRENT APPOINTMENTS

2024 – current: Team Head, Neurogenetics and Dementia Lab at QIMR Berghofer Medical Research Institute

2020-current: Honorary Senior Fellow, School of Biomedical Sciences, University of Queensland (UQ)

2018-current: Adjunct Associate Professor, School of Biomedical Sciences at the Queensland University of Technology (QUT)

PREVIOUS APPOINTMENTS

2017- 2023: Senior Research Officer in the Genetic Epidemiology group headed by Professor Nick Martin at QIMR Berghofer Medical Research Institute

2015-2019: Visiting Academic in the Imaging Genomics Group at the Queensland Brain Institute and Centre for Advanced Imaging headed by Associate Professor Margie Wright at the University of Queensland

2015-2017: Research Officer, Neuroimaging Genetics, then transferred to Genetic Epidemiology, QIMR Berghofer

2009-2012: Post-doctoral Research Worker, Kings College London (KCL), UK

2011-2012: Demonstrator for Advanced Research Methods, Psychology Undergraduate and Certificate Programme at Birkbeck University of London, UK

2006-2009: MRC capacity building PhD Studentship in Neuroscience at KCL

2004-2006: Research Assistant, Medical and Molecular Genetics, KCL

ORCID NUMBER

0000-0002-7274-7299

CURRENT AREA OF RESEARCH

Associate Professor Lupton specialises in genetic association studies (with a focus on dementia and Alzheimer’s disease), neuroimaging genetics, genetic risk prediction, and Mendelian Randomisation analysis. Core aims are to improve understanding of the early effect of Alzheimer’s disease genetic risk factors, identify early disease and prodromal biomarkers and identify causal risk factors. Michelle co-leads the PISA cohort study, leading the QIMRB site and the genetics, epidemiology and blood analysis streams. She has contributed to world class consortia including the Alzheimer’s Exome Sequencing Group and the leading GWAS Meta-analysis consortia. She has designed protocols and coordinated samples for leading cohort studies including GERAD, Addneuromed, PISA and ADNeT. She is the Global Regional Lead for Oceania for the DEMON network, an international Network for data science and AI applied to dementia research, and Program Chair for the Alzheimer’s Association ISTAART PIA Artificial Intelligence for Precision Dementia Medicine.

RESEARCH HIGHLIGHTS

The investigation of genetic variation associated with AD in healthy individuals

Associate Professor Lupton’s current research focus aims to improve understanding of the early effect of AD genetic risk factors, and identify biomarkers before clinical diagnosis. She is Chief Investigator and the genetics and epidemiology lead for the Prospective Imaging Study of Aging: Genes, Brain and Behaviour (PISA). She has designed participant selection for PISA using a polygenic risk score approach. She has also worked on both elderly and young population based cohorts including OATS (Older Australian Twin Study), MAS (Sydney Memory and Aging Study) and QTIM (Queensland Twin Imaging) focusing on brain phenotypes including MRI measures. She uses polygenic risk score and Mendelian Randomization approaches to investigate casual relationships between phenotypes and co-morbid diseases.

Genome Wide Association Studies in AD

During her PhD and first post doc in the UK, Associate Professor Lupton’s worked with Prof John Powell, Prof Simon Lovestone, and Dr Angela Hodges at KCL on Alzheimer’s disease case/control cohorts with collaborations continuing to the present time. Cohorts included GERAD (Genetic and Environmental Risk in Alzheimer’s disease) led by Prof Julie Williams and AddNeuroMed (Innovative Medicines (InnoMed) in Europe). She has extensive wet lab experience and has coordinated DNA samples and datasets for these large cohorts, liaising with national and international collaborators. She is a member of IGAP (International Genomics of Alzheimer’s Project), a worldwide GWAS Meta-analysis consortium.

The contribution of rare genetic variation to AD

Associate Professor Lupton has carried out several sequencing studies including library preparation, and the use and development of data analysis pipelines. She is part of the AESG (Alzheimer’s Exome Sequencing Group) with Prof John Hardy at University College London and contributed to the exome sequencing study which identified the TREM2 risk variant for AD. She is also part of the GERAD consortium exome chip study which identified additional rare coding variants which are associated with AD risk, and further implicated the inflammation pathway in AD pathogenesis.

AD blood based biomarkers

Associate Professor Lupton’s have contributed to several AD biomarker studies and am currently working in this area in the PISA study and in collaboration with groups across Australia as part of an NHMRC MRFF grant awarded in the Dementia, Aging and Age Care Mission with the aim to develop a blood biomarker test to predict onset and progression of cognitive decline in dementia. In addition to carrying out genome-wide methylation analysis in the PISA cohort. With this work she aims to investigate the potential for DNA methylation in the blood as an easily accessible midlife prognostic biomarker for AD.

PROFESSIONAL MEMBERSHIPS

Program Chair for the Alzheimer’s Association ISTAART (International Society to Advance Alzheimer’s Research and Treatment) PIA (Professional Interest Area) Artificial Intelligence for Precision Dementia Medicine.

Member of the following societies: Brisbane Aging Dementia Research Alliance (ADRA), International Society to Advance Alzheimer’s Research and Treatment (ISTAART), the American Society of Human Genetics (ASHG), and the Australian Epigenetics Alliance (AEpiA).

Organiser of monthly QIMRB Mental Health Program Seminars.

AWARDS RECOGNITION

2018-2021: NHMRC Boosting Dementia Research Leadership Fellowship

2012-2016: QIMR Early Career Postdoctoral Fellowship from the Perpetual Foundation

2016: The Australian Society for Medical Research Senior Researcher Award Finalist

2011: International Congress of Human Genetics trainee research award semi-finalist

2009: Kings College London Health Schools graduate showcase oral presentation prize

CURRENT RESEARCH SUPPORT

NHMRC Medical Research Future Fund (MRFF)-Dementia, Ageing and Aged Care Mission scheme CIC “Blood testing to predict and discriminate dementias” 2021-2026

Perpetual IMPACT Philanthropy Grant PI 2022-2024

EDUCATIONAL BACKGROUND

2010: PhD Neuroscience, Kings College London (KCL), UK

2003: BSc Honours Human Genetics, University of Nottingham, UK

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