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Collaborative Genomics and Translation

The Collaborative Genomics and Translation Group’s research focuses on the application of a precision health and human performance model with the aim to move from a ‘one-sized-fits all’ approach to more effective, personalised solutions to improve health and human performance outcomes. The group consists of a team of multidisciplinary researchers focusing on neurological disorders, including Alzheimer’s and Huntington’s disease, and cancer. Further, it leverages significant collaborations with ECU’s human performance researchers (athletic/tactical strength and conditioning). Building upon existing knowledge and expertise across genomics and evidence-based health and human performance strategies the overarching focus is the development of innovative solutions to improve diagnostic, prevention, and monitoring strategies that will keep people healthy and performing better.

Our objective is to maximise quality of life and physical performance through implementing a precision health model for the development of improved diagnostic and tailored intervention strategies.

Our vision is to develop, implement and promote the ethical application of genetic data for the enhancement of health and human performance.

Towards this we are committed to the sustainable growth and development of world class genomics, bioinformatics and data science capabilities to be integrated with phenotypic, clinical and physical performance data.

The Group is predominantly based at the Sarich Neuroscience Research Institute on the QE2 Medical Campus in Nedlands and maintains significant links and a footprint at ECU’s Joondalup Campus.

For more information, contact Professor Simon Laws

Current projects

Health Portfolio (Alzheimer’s and Huntington’s Disease, Cancer)

  • Huntington's Disease Research Group
  • Genetic and lifestyle susceptibility and resilience factors affecting rates of change in preclinical Alzheimer's Disease
  • Investigating the relationship between sleep, polygenic risk for low relative amplitude and Alzheimer’s disease phenotypes
  • Interaction of genetic variation in the neurotrophic pathway and physical activity in relationship to hippocampal volume
  • Peripheral DNA methylation patterns, methylation age and Alzheimer's disease risk and related phenotypes
  • Understanding the genetic and epigenetic underpinnings of hippocampal volume and the influence of physical activity
  • The impact of the interaction between SIRT1 and lifestyle factors on Alzheimer’s disease risk and related phenotypes
  • Alzheimer's dementia and progression in international cohorts
  • E-DADS: Early Detection of Alzheimer s Disease Subtypes
  • BRAIN-MEND: Biological Resource Analysis to Identify new mechanisms and phenotypes in Neurodegenerative Diseases
  • Understanding the biology behind the benefits of physical activity in the elderly
  • The feasibility and therapeutic effectiveness of computerised cognitive training, compared to usual care, for breast cancer patients undertaking adjuvant chemotherapy
  • The feasibility and therapeutic effectiveness of cognitive and exercise training, compared to usual care, for breast cancer patients following chemotherapy
  • The feasibility and therapeutic effectiveness of light therapy, compared to usual care, for breast cancer patients during chemotherapy.
  • The feasibility and therapeutic utility of a novel remotely supervised multidisciplinary therapy coaching program, compared to lifestyle guidance on the clinical and biological trajectory of Huntington’s disease
  • Unveiling the neurobiological factors contributing to social cognitive problems in individuals with Huntington’s disease
  • Unveiling the neuropathological changes underpinning dual tasking impairments in individuals with Huntington’s disease
  • Exploring neuromuscular function as novel clinical endpoint for Huntington’s disease
  • Exploring the utility of hair cortisol as a marker of disease progression in Huntington’s disease
  • Exploring the validity of diffusion kurtosis imaging for Huntington’s disease

Human Performance Portfolio

  • Acute and chronic interference effect: insights into the role of genetic variation
  • Determinants of performance in tennis players
  • Determining internal and external loads during simulated match play in tennis players

Research Team

Group Leader

Deputy Lead/ECU Strategic Research Fellow

Lifestyle Enrichment Lead/Postdoctoral Fellow

Alzheimer’s disease

  • Andre Vieira, MBR
  • Jaisalmer de Frutos, PhD
  • Lidija Milicic, PhD
  • Madeline Peretti, PhD
  • Mehrane Mehramiz, PhD

Human Performance

  • Mitchell Turner, PhD
  • Maria Grammenou, PhD

Lifestyle Enrichment

  • Kate Turner, MBR
  • Jay Bycroft, MBR
  • Sam Adams, MBR
  • Matt Osman, MBR

Postgraduate student project opportunities

Health Portfolio (Alzheimer’s and Huntington’s Disease, Cancer)

  • Understanding the Genomic Architecture of Rates of Change in AD-related Phenotypes
    • Develop genetic/epigenetic risk profiles for rates of change
    • Determine if peripheral methylation patterns track with AD phenotypes
  • The interaction of genomics and modifiable lifestyle factors and the impact on rates of change in AD-related phenotypes
    • Understanding the genetic basis of differential effects of lifestyle patterns/choices
    • Determine the impact of positive lifestyle choices on peripheral methylation patterns

Human Performance Portfolio

  • Understanding how genetics can be used for the optimisation of training for improved performance and injury prevention

For more information visit the SMHS Higher Degree by Research or HDR students project opportunities webpages.

Key Publications

For further publications please visit pages of our researcher’s using links above

  • Burnham, S., Coloma, P., Li, Q., Collins, S., Savage, G., Laws, S., Doecke, J., Maruff, P., Martins, R., Ames, D., Rowe, C., Masters, C., Villemagne, V., (2019), Application of the NIA-AA Research Framework: Towards a Biological Definition of Alzheimer’s Disease Using Cerebrospinal Fluid Biomarkers in the AIBL Study. The Journal of Prevention of Alzheimer's Disease, 6(4), 248-255, DOI: 10.14283/jpad.2019.25.
  • Vacher, M., Porter, T., Villemagne, V., Milicic, L., Peretti, M., Fowler, C., Martins, R., Rainey-Smith, S., Ames, D., Masters, C., Rowe, C., Doecke, J., Laws, S., (2019), Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition. Scientific Reports, 9(2019), Article number 17069, DOI: 10.1038/s41598-019-53604-5.
  • Porter, T., Burnham, S., Milicic, L., Savage, G., Maruff, P., Lim, YY., Ames, D., Masters, C., Martins, R., Rainey-Smith, S., Rowe, C., Salvado, O., Groth, D., Verdile, G., Villemagne, V., Laws, S., (2019), Klotho allele status is not associated with Ab and APOE ε4erelated cognitive decline in preclinical Alzheimer’s disease. Neurobiology of Aging, 76(April 2019), 162-165, United States, Elsevier, DOI: 10.1016/j.neurobiolaging.2018.12.014.
  • Brown, B., Castalanelli, N., Rainey-Smith, S., Doecke, J., Weinborn, M., Sohrabi, H., Laws, S., Martins, R., Peiffer, J., (2019), Influence of BDNF Val66Met on the relationship between cardiorespiratory fitness and memory in cognitively normal older adults. Behavioural Brain Research, 362(19 April 2019), 103-108, DOI: 10.1016/j.bbr.2019.01.013.
  • Russell, A., Kepka, A., Trbojevic-Akmacic, I., Ugrina, I., Song, M., Hui, J., Hunter, M., Laws, S., Lauc, G., Wang, W., (2019), Increased central adiposity is associated with pro-inflammatory immunoglobulin G N-glycans. Immunobiology, 224(1), 110-115, DOI: 10.1016/j.imbio.2018.10.002.
  • Porter, T., Burnham, S., Milicic, L., Savage, G., Maruff, P., Sohrabi, H., Peretti, M., Lim, YY., Weinborn, M., Ames, D., Masters, C., Martins, R., Rainey-Smith, S., Rowe, C., Salvado, O., Groth, D., Verdile, G., Villemagne, V., Laws, S., (2019), COMT val158met is not associated with Aβ-amyloid and APOE ε4 related cognitive decline in cognitively normal older adults. IBRO Reports, 6(June 2019), 147-152, DOI: 10.1016/j.ibror.2019.05.001.
  • Huq, A., Fransquet, P., Laws, S., Ryan, J., Sebra, R., Masters, C., Winship, I., James, P., Lacaze, P., (2019), Genetic resilience to Alzheimer’s disease in APOE ε4 homozygotes: A systematic review. Alzheimer's and Dementia, 15(12), 1612-1623, United States, Elsevier Science Inc., DOI: 10.1016/j.jalz.2019.05.011.
  • Jacob, Y., Hart, N., Cochrane Wilkie, J., Spiteri, T., Laws, S., Jones, A., Rogalski, B., Kenna, J., Anderton, R., (2019), ACTN3 (R577X) genotype is associated with Australian Football League players. Journal of Strength and Conditioning Research, article in press(x), x, United States, Lippincott Williams & Wilkins, DOI: 10.1519/JSC.0000000000003458.
  • Porter, T., Villemagne, V., Savage, G., Milicic, L., Lim, YY., Maruff, P., Masters, C., Ames, D., Bush, A., Martins, R., Rainey-Smith, S., Rowe, C., Taddei, K., Groth, D., Verdile, G., Burnham, S., Laws, S., (2018), Cognitive gene risk profile for the prediction of cognitive decline in presymptomatic Alzheimer’s disease. Personalized Medicine in Psychiatry, 7-8(2018), 14-20, United States, Elsevier, DOI: 10.1016/j.pmip.2018.03.001.
  • Rainey-Smith, S., Mazzucchelli, G., Villemagne, V., Brown, B., Porter, T., Weinborn, M., Bucks, R., Milicic, L., Sohrabi, H., Taddei, K., Ames, D., Maruff, P., Masters, C., Rowe, C., Salvado, O., Martins, R., Laws, S., (2018), Genetic variation in Aquaporin-4 moderates the relationship between sleep and brain Aβ-amyloid burden. Translational Psychiatry, 8(1), Article no. 47, United Kingdom, Nature Publishing Group, DOI: 10.1038/s41398-018-0094-x.
  • Lim, YY., Kalinowski, P., Pietrzak, R., Laws, S., Burnham, S., Ames, D., Villemagne, V., Fowler, C., Rainey-Smith, S., Martins, R., Rowe, C., Masters, C., Maruff, P., (2018), Association of β-Amyloid and Apolipoprotein E ε4 With Memory Decline in Preclinical Alzheimer Disease. JAMA Neurology, 75(4), 488-494, United States, American Medical Association, DOI: 10.1001/jamaneurol.2017.4325.
  • Porter, T., Burnham, S., Dore, V., Savage, G., Bourgeat, P., Begemann, K., Milicic, L., Ames, D., Bush, A., Maruff, P., Masters, C., Rowe, C., Rainey-Smith, S., Martins, R., Groth, D., Verdile, G., Villemagne, V., Laws, S., (2018), KIBRA is associated with accelerated cognitive decline and hippocampal atrophy in APOE ε4- positive cognitively normal adults with high Aβ-amyloid burden. Scientific Reports, 8(1), Article no.2034, United Kingdom, Nature Publishing Group, DOI: 10.1038/s41598-018-20513-y.
  • Russell, A., Adua, E., Ugrina, I., Laws, S., Wang, W., (2018), Unravelling immunoglobulin G Fc N-glycosylation: A dynamic marker potentiating predictive, preventive and personalised medicine. International Journal of Molecular Sciences, 19(2), article no.390, DOI: 10.3390/ijms19020390.
  • Porter, T., Burnham, S., Milicic, L., Savage, G., Maruff, P., Lim, YY., Li, Q., Ames, D., Masters, C., Rainey-Smith, S., Rowe, C., Salvado, O., Groth, D., Verdile, G., Villemagne, V., Laws, S., (2018), Utility of an Alzheimer’s Disease Risk-Weighted Polygenic Risk Score for Predicting Rates of Cognitive Decline in Preclinical Alzheimer’s Disease: A Prospective Longitudinal Study. Journal of Alzheimer's Disease, 66(3), 1193-1211, Netherlands, IOS Press, DOI: 10.3233/JAD-180713.
  • Porter, T., Burnham, S., Savage, G., Lim, YY., Maruff, P., Milicic, L., Peretti, M., Ames, D., Masters, C., Martins, R., Rainey-Smith, S., Rowe, C., Salvado, O., Taddei, K., Groth, D., Verdile, G., Villemagne, V., Laws, S., (2018), A polygenic risk score derived from episodic memory weighted genetic variants is associated with cognitive decline in preclinical Alzheimer's disease. Frontiers in Aging Neuroscience, 10(Dec 2018), Article number 423, Switzerland, Frontiers Research Foundation, DOI: 10.3389/fnagi.2018.00423.
  • Lim, YY., Rainey-Smith, S., Lim, Y., Laws, S., Gupta, V., Porter, T., Bourgeat, P., Ames, D., Fowler, C., Salvado, O., Villemagne, V., Rowe, C., Masters, C., Zhou, XF., Martins, R., Maruff, P., (2017), BDNF Val66Met in preclinical Alzheimer’s disease is associated with short-term changes in episodic memory and hippocampal volume but not serum mBDNF. International Psychogeriatrics, 29(11), 1825-1834, Cambridge, United Kingdom, Cambridge University Press, DOI: 10.1017/S1041610217001284.
  • Laws, S., Gaskin, S., Woodfield, A., Srikanth, V., Bruce, D., Fraser, P., Porter, T., Newsholme, P., Wijesekara, N., Burnham, S., Dore, V., Li, Q., Maruff, P., Masters, C., Rainey-Smith, S., Rowe, C., Salvado, O., Villemagne, V., Martins, R., Verdile, G., (2017), Insulin resistance is associated with reductions in specific cognitive domains and increases in CSF tau in cognitively normal adults. Scientific Reports, 7(1), Article no. 9766, London, United Kingdom, Nature Publishing Group, DOI: 10.1038/s41598-017-09577-4.
  • Lim, YY., Williamson, R., Laws, S., Villemagne, V., Bourgeat, P., Fowler, C., Rainey-Smith, S., Salvado, O., Martins, R., Rowe, C., Masters, C., Maruff, P., (2017), Effect of APOE genotype on amyloid deposition, brain volume, and memory in cognitively normal older individuals. Journal of Alzheimer's Disease, 58(4), 1293-1302, Amsterdam, Netherlands, IOS Press, DOI: 10.3233/JAD-170072.
  • Pietrzak, RH., Laws, S., Lim, YY., Bender, SJ., Porter, T., Doecke, J., Ames, DJ., Fowler, CJ., Masters, CL., Milicic, L., Rainey-Smith, S., Villemagne, VL., Rowe, CC., Martins, R., Maruff, P., (2017), Plasma Cortisol,Brain Amyloid-β, and Cognitive Decline in Preclinical Alzheimer’s Disease: A 6-Year Prospective Cohort Study. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 2(1), 45-52, DOI: 10.1016/j.bpsc.2016.08.006.
  • Brown, B., Rainey-Smith, S., Castalanelli, N., Gordon, N., Markovic, S., Sohrabi, H., Weinborn, M., Laws, S., Doecke, J., Shen, K., Martins, R., Peiffer, JJ., (2017), Study protocol of the Intense Physical Activity and Cognition study: The effect of high-intensity exercise training on cognitive function in older adults. Alzheimer's and Dementia, 3(4), 562-570, United States, Elsevier Science Inc., DOI: 10.1016/j.trci.2017.09.003.
  • Brown, B., Rainey-Smith, S., Villemagne, V., Weinborn, M., Bucks, R., Sohrabi, H., Laws, S., Taddei, K., Macaulay, SL., Ames, D., Fowler, C., Maruff, P., Masters, C., Rowe, C., Martins, R., (2016), The relationship between sleep quality and brain amyloid burden. Sleep, 39(5), 1063-1068, Westchester, USA, Associated Professional Sleep Societies,LLC, DOI: 10.5665/sleep.5756.
  • Burnham, S., Bourgeat, P., Dore, V., Savage, G., Brown, B., Laws, S., Maruff, P., Salvado, O., Ames, D., Martins, R., Masters, C., Rowe, C., Villemagne, V., (2016), Clinical and cognitive trajectories in cognitively healthy elderly individuals with suspected non-Alzheimer's disease pathophysiology (SNAP) or Alzheimer's disease pathology: a longitudinal study. Lancet Neurology, 15(10), 1044-1053, London, UK, Lancet Publishing Group, DOI: 10.1016/S1474-4422(16)30125-9.
  • Lim, Y., Laws, S., Villemagne, V., Pietrzak, R., Porter, T., Ames, D., Fowler, C., Rainey-Smith, S., Snyder, P., Martins, R., Salvado, O., Bourgeat, P., Rowe, C., Masters, C., Maruff, P., (2016), Aβ-related memory decline in APOE ε4 non-carriers: Implications for Alzheimer’s disease. Neurology, 86(17), 1635-1642, Lippincott Williams and Wilkins, DOI: 10.1212/WNL.0000000000002604.
  • Burnham, S., Rowe, C., Baker, D., Bush, A., Doecke, JD., Faux, N., Laws, S., Martins, R., Maruff, P., Macaulay, S., Rainey-Smith, S., Savage, G., Ames, D., Masters, C., Wilson, W., Villemagne, V., (2016), Predicting Alzheimer disease from a blood-based biomarker profile. Neurology, 87(11), 1093-1101, Lippincott Williams and Wilkins, DOI: 10.1212/WNL.0000000000003094.
  • Turner, M., Reyes, A., Bartlett, D.M., Culpin, S., Hart, N.H., Hardt, L., Feindel, K., Poudel, G.R., Ziman, M. and Cruickshank, T.M., Exploring the brain-body composition relationship in Huntington’s disease.
  • Cruickshank, T#., Bartlett, D#., Govus, A., Hannan, A., Teo, W., Mason, S., Lo, J., Ziman, M. The relationship between lifestyle and serum neurofilament light protein in Huntington’s disease. Brain and Behavior. In Press. 2020. Authors contributed equally.
  • Bartlett, D., Lazar, A., Kordsachia, C., Rankin, T., Lo, J., Govus, A., Power, B., Lampit, A., Eastwood, P., Ziman, M., Cruickshank, T. Multidisciplinary rehabilitation reduces hypothalamic grey matter volume loss in individuals with preclinical Huntington's disease: A nine-month pilot study. Journal of the neurological sciences 408 (2020): 116522.
  • Bartlett, D., Poudel, B., Maddison, K., Lampit, A., Dann, L., Eastwood, P., Lazar, P., Ziman, M., and Cruickshank, T. Effect of multidisciplinary rehabilitation on sleep outcomes in individuals with preclinical Huntington disease: An exploratory study. Annals of physical and rehabilitation medicine, 2019.
  • Reyes, A., Castillo, A., Castillo, J., Cornejo, I., Cruickshank, T. The Effects of Respiratory Muscle Training on Phonatory Measures in Individuals with Parkinson's Disease. Journal of Voice, 2019; 33(4), 1-7.
  • Bartlett D, Dominguez J, Reyes A, Slater J, Zaenker P, Feindel K, Newton R, Hannan A, Eastwood P, Lazar A, Ziman M, Cruickshank T. Investigating the Relationships Between Hypothalamic Volume and Measures of Circadian Rhythm and Habitual Sleep in Premanifest Huntington’s Disease. Neurobiology of Sleep and Circadian Rhythms. 2019;8:1-8.
  • Cruickshank T, Reyes A, Penailillo L, Pulverenti T, Bartlett D, Zaenker P, Blazevich A, Newton R, Thompson J, Barker R, Ziman M. Effects of multidisciplinary therapy on physical function in Huntington’s disease. Acta Neurologica Scandinavica. 2018; 138(6):500-507
  • Bartlett, Danielle M., Travis M. Cruickshank, Anthony J. Hannan, Peter R. Eastwood, Alpar S. Lazar, and Mel R. Ziman. "Neuroendocrine and neurotrophic signaling in Huntington’s disease: implications for pathogenic mechanisms and treatment strategies." Neuroscience & Biobehavioral Reviews 71 (2016): 444-454.
  • Cruickshank TM, Thompson JA, Domínguez D, Juan F, Reyes AP, Bynevelt M, et al. The effect of multidisciplinary rehabilitation on brain structure and cognition in Huntington's disease: an exploratory study. Brain and behavior. 2015;5(2).
  • Cruickshank TM, Reyes AR, Ziman MR. A Systematic Review and Meta-Analysis of Strength Training in Individuals With Multiple Sclerosis Or Parkinson Disease. Medicine. 2015;94(4):e411.
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