Stem Cell Disease Modelling Laboratory

Project Details

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

Service Node- Phenomics Australia

Phenomics Australia is a forward-thinking research infrastructure provider enabling research discovery and high-impact healthcare outcomes in precision medicine. Through openly accessible service delivery centres, we offer specialised infrastructure, research services and technical expertise dedicated to advancing our fundamental understanding of health and disease, and enabling next-generation innovations in healthcare and therapeutic development to benefit all Australians. We are supported by the Australian Government through the National Collaborative Research Infrastructure Strategy, (NCRIS). NCRIS supports Australia’s research capability by investing in research infrastructure and making it accessible to researchers across the nation.

Services: Phenomics Australia provides a broad panel of in vivo and in vitro genome engineering and disease modelling, functional genomics and high-throughput screening, biobanking and pathology services and technical expertise, for discovery and a new understanding of the molecular basis of disease to benefit all Australians. More information about Phenomics Australia services can be found here.

As a service node of Phenomics Australia, we provide on-demand reprogramming of patient samples into iPSCs, their quality control and banking, focusing on the production of large-scale iPSC cohort. We can reprogram from various primary cell types, and with different reprogramming approaches. Our service also includes training of researchers in these procedures.

Please contact our node manager Dr Maciej Daniszewski for further information.


Professor Alice Pébay, Research Project Leader & Head of Laboratory

Dr Grace Lidgerwood, 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

Prof Andrew Morris, University of Kentucky, USA


National Health & Medical Research Council

Medical Research Future Fund

Research Outcomes

Research Group

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Anatomy and Physiology

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