Stem Cell Disease Modelling Laboratory

Research Overview

View Professor Pébay's latest publications listing here

Our laboratory focuses on the study of human pluripotent stem cells for modelling neurodegenerative diseases.

The difficulty in obtaining brain or ocular tissue from living people is a major barrier to developing new treatments for neurodegenerative disease. We can now generate stem cells from adult tissue, and these “induced pluripotent stem cells” (iPSCs) represent a powerful disease modelling tool. Generating iPSCs directly from patients allows cells to be differentiated into specific cells of interest for disease modelling, drug screening, and understanding of fundamental pathogenic mechanisms.

We differentiate iPSCs into various cell types of the nervous system, as monolayers or as organoids. Using these cells, we model age-related macular degeneration, glaucoma, inherited retinal dystrophies and optic neuropathies, in order to establish the molecular events leading to disease progression and aspects of neurodegeneration.

We also use gene editing technology for correction of monogenic diseases of the retina and the optic nerve. The CRISPR system is used by bacteria to counter viral intrusion and has been adapted to allow efficient editing of the mammalian nuclear genome. CRISPR-based technology is being heralded as a relatively straightforward technology for in vitro correction of genetic mutations in patient-specific cells and is particularly attractive for treating inherited diseases caused by genes with very specific spatial and stoichiometric expression, such as those found in many of the monogenic diseases we study. We use our unique cohort of patients with distinct monogenic inherited retinal dystrophies and iPSC technology to directly study the utility of genomic editing and correction.

A wound assay of human pluripotent stem cell-derived retinal pigment epithelial (RPE) cells, cytoskeletal marker Vimentin (red), proliferation marker Ki67 (green), nuclear stain with DAPI (blue)

Human pluripotent stem cell-derived cerebral organoid, stained for neuronal marker MAP2 (green), glial marker GFAP (red), nuclear stained with DAPI (blue)

Human pluripotent stem cell colony

Human pluripotent stem cell-derived endothelial cells stained with endothelial markers Von Willebrand factor (vWR, red), vascular endothelial cadherin (VE-CAD, green), nuclear stained with DAPI


Professor Alice Pébay, Research Project Leader & Head of Laboratory

Dr Grace Lidgerwood, Research Fellow

Dr Damian Hernandez, Research Fellow

Dr Maciej Daniszewski, Research Fellow

Dr Maria Di Biase, Visiting Research Fellow

Ms Lerna Jurdukian, Senior Research Support Officer

Ms Jenna Hall, PhD student


Prof Alex Hewitt, University of Tasmania & Centre for Eye Research Australia

Prof Robyn Guymer, Centre for Eye Research Australia

A/Prof Joseph Powell, Garvan Institute of Medical Research

A/Prof Mirella Dottori, University of Wollongong

Dr Max Lim, St Vincent Institute

Dr Ruchira Singh, University of Rochester, USA

Dr Celeste Karch, Washington University School of Medicine, St. Louis, USA

Prof Andrew Morris, University of Kentucky, USA


National Health & Medical Research Council Australian Research Council

Stem Cells Australia

Macular Disease Foundation of Australia

Ophthalmic Research Institute of Australia

Dementia Australia

Yulgilbar Alzheimer’s Research Program

Research Outcomes

Recent Research Publications

*Equal last authors

Pluripotent Stem Cells and Disease Modelling

Daniszewski M*, Senabouth A*, Nguyen QH, Crombie DE, Lukowski SW, Kulkarni T, Sluch VM, Jabbari JS, Chamling X, Zack DJ, Pébay A*, Powell JE* and Hewitt AW* (2018). Single Cell RNA Sequencing of stem cell-derived retinal ganglion cells. Scientific Data. 5:180013

Karch C, Hernández D, Chyong Wang J, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal C, Berman S, Cruchaga C, Morris JC, Bateman R, Pébay A, Goate AM (2018). Human Fibroblast and Stem Cell Resource from the Dominantly Inherited Alzheimer Network. Alzheimer's Research & Therapy 10:69

Wong RCB, Lim SY, Hung SSH, Jackson S, Khan S, Van Bergen N, De Smit E, Liang HH, Kearns L, Clarke L, Mackey D, Hewitt AW, Trounce IA* and Pébay A* (2017). Mitochondrial replacement in an iPSC model of Leber’s hereditary optic neuropathy. Aging-US 9(4):1341-1350.

McCaughey T, Liang HL, Chen C, Fenwick E, Rees G, Wong RCB, Vickers JC, Summers MJ, MacGregor C, Craig JE, Munsie M, Pébay A*, Hewitt AW* (2016). An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell. Cell Stem Cell.18 (3): 307-308.

Lim S, Sivakumaran P, Crombie DE, Dusting GJ*, Pébay A*, Dilley R* (2013). Trichostatin-A Enhances Differentiation of Human Induced Pluripotent Stem Cells to Cardiogenic Cells for Cardiac Tissue Engineering. Stem Cells Translational Medicine 2(9): 715-25.

Liu J*, Verma PJ*, Evans-Galea M, Delaticky MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M* and Pébay A* (2011). Generation of induced pluripotent stem cell lines from Friedreich Ataxia patients. Stem Cell Reviews and Reports. 7(3), 703-13.


Lidgerwood GE, Morris A, Conquest A, Daniszewski M, Rooney LA, Lim SY, Hernández D, Liang HH, Allen P, Connell PP, Guymer RH, Hewitt AW and Pébay A (2018). Role of lysophosphatidic acid in the retinal pigment epithelium and photoreceptors. BBA Molecular and Cellular Biology of Lipids 7:750-761.

Crack PJ, Zhang M, Morganti-Kossmann MC, Morris A, Wojciak JM, Fleming JK, Karve I, Wright D, Sahindranath M, Goldshmit Y, Conquest A, Daglas M, Johnston LA, Medcalf RL, Sabbadini RS and Pébay A (2014). Anti-lysophosphatidic acid antibodies improve traumatic brain injury outcomes. Journal of Neuroinflammation 11(1): 37.

Frisca F, Crombie DE, Dottori M, Goldshmit Y and Pébay A (2013). The Rho/ROCK pathway is essential to the expansion, differentiation and morphological rearrangements of human neural stem/progenitor cells induced by lysophosphatidic acid. Journal of Lipid Research 54(5): 1192-1206.

Goldshmit Y, Matteo R, Sztal T, Ellett F, Frisca F, Moreno K, Crombie D, Lieschke GJ, Currie PD, Sabbadini RA and Pébay A (2012). Blockage of lysophosphatidic acid signalling improves spinal cord injury outcomes. American Journal of Pathology 181(3): 978-992.

Frugier T, Crombie D, Conquest A, Tjhong F, Taylor C, Kulkarni T, McLean C and Pébay A (2011). Modulation of LPA receptor expression in the human brain following neurotrauma. Cellular and Molecular Neurobiology. 31:569-577.

CRISPR - gene editing

McCaughey T*, Budden DM*, Sanfilippo PG*, Gooden GEC, Fan L, Fenwick E, Rees G, MacGregor C, Si L, Chen C, Liang HH, Pébay A*, Baldwin T*, Hewitt AW* (2019). A need for better understanding is the major determinant for public perceptions of human gene editing. Human Gene Therapy 30(1):36-43.

Galloway C, Dalvi S, Hung SSC, MacDonald L, Latchney L, Wong RCB, Guymer RH, Mackey DA, Williams DS, Chung M, Gamm D, Pébay A, Hewitt AW and Singh R (2017). Drusen in a dish: Novel patient-derived hiPSC model(s) of macular dystrophies. Proceedings of the National Academy of Sciences: 114(39): E8214-E8223

McCaughey T*, Sanfilippo PG*, Gooden GEC*, Budden DM, Fan L, Fenwick E, Rees G, MacGregor C, Craig JE, Si L, Chen C, Liang HH, Baldwin T, Pébay A*, Hewitt AW* (2016). A global social media survey of attitudes to human genome editing. Cell Stem Cell. 18 (5): 569-572.

Hung SSC, Chrysostomou V, Fan LM, Lim JKH, Wang JH, Powell JE, Tu L, Daniszewski M, Lo C, Wong RCB, Crowston JG, Pébay A, King AE, Bui BV, Liu GS*, Hewitt AW* (2016). AAV-mediated CRISPR/Cas gene editing of retinal cells in vivo. Investigative Ophthalmology & Visual Science. 57: 3470-3476

Other Recent Research Publications

*Co-senior authors

Daniszewski M*, Nguyen Q*, Chy HS Singh V, Crombie DE, Kulkarni T, Liang HH, Sivakumaran P, Lidgerwood GE, Hernández D, Conquest A, Rooney LA, Chevalier S, Andersen SB, Senabouth A, Vickers JC, Mackey DA, Craig JE, Laslett AL, Hewitt AW*, Powell JE*, Pébay A* (2018). Single cell profiling identifies key pathways expressed by iPSCs cultured in different commercial media. iScience 7: 30-39.

Crombie DE, Curl CL, Raaijmakers AJA, Sivakumaran P, Kulkarni T, Wong RCB, Minami I, Evans-Galiea MV, Lim SY, Delbridge L, Corben LA, Dottori M, Nakatsuji N, Trounce IA, Hewitt AW, Delatycki MB, Pera MF and Pébay A (2017). Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency. Aging-US: 9(5) 1440-52

Crombie DE*, Daniszewski M*, Liang HH, Kulkarni T, Li F, Lidgerwood GE, Conquest A, Hernandez D, Hung SS, Gill KP, De Smit E, Kearns L, Clarke L, Sluch VM, Chamling X, Zack DJ, Wong RCB, Hewitt AW* and Pébay A*(2017). Development of a modular automated system for maintenance and differentiation of adherent human pluripotent stem cells. SLAS Discovery: 22(8): 1016-1025.

Gill K, Hung S, Sharov A, Lo C, Needham K, Lidgerwood G, Jackson S, Crombie D, Nayagam B, Cook A, Hewitt A, Pébay A*, Wong RCB* (2016). Enriched retinal ganglion cells derived from human embryonic stem cells. Scientific Reports, 6, 30552-63

Lidgerwood GE, Ali R, Lim SY, Crombie DE, Gill KP, Hernández D, Kie J, Conquest A, Waugh HS, Wong RCB, Liang HH, Hewitt AW*, Davidson KC*, Pébay A* (2016). Defined medium conditions for the induction and expansion of human induced pluripotent stem cell-derived retinal pigment epithelium. Stem Cell Reviews and Reports. 12(2): 179-188.

Selected reviews

Lidgerwood GE, Pitson SM, Bonder C, Pébay A. Roles of lysophosphatidic acid and sphingosine-1-phosphate in stem cell biology (2018). Progress in Lipid Research 72: 42-54

Daniszewski M, Crombie DE, Henderson R, Liang HH, Wong RCB, Hewitt AW and Pébay A*. Automated cell culture systems and their applications to human pluripotent stem cell studies. SLAS Technology. 23 (4) 315-25

Crombie DE, Pera MF, Delatycki MB and Pébay A (2016). Using Human Pluripotent Stem Cells to Study Friedreich Ataxia Cardiomyopathy. International Journal of Cardiology 212: 37-43.

Gill KP, Hewitt AH, Davidson KC, Pébay A and Wong RCB (2014). Methods of retinal ganglion cell differentiation from pluripotent stem cells. Translational Vision Science & Technology 3(4): 1-13.

Davidson KC, Guymer RH, Pera MF and Pébay A (2014). Human pluripotent stem cell strategies for age-related macular degeneration. Optometry & Vision Science 91(8): 887-93.

Selected edited books

Stem Cell Biology and Regenerative Medicine, Lipidomics of Stem Cells. Humana Press. Pébay & Wong Editors. March 2017.

Stem Cell Biology and Regenerative Medicine, Regenerative Biology of the Eye. Humana Press. Pébay & Turksen Editors. May 2014.

Research Projects

This Research Group doesn't currently have any projects

Faculty Research Themes

School Research Themes

Cancer in Biomedicine, Biomedical Neuroscience, Stem Cells

Key Contact

For further information about this research, please contact Head of Laboratory Professor Alice Pebay

Department / Centre

Anatomy and Physiology

Unit / Centre

Stem Cell Disease Modelling Laboratory

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