New stem cell models for aging and eye disease

Professor Alice P├ębay writes for Pursuit about using stem cell modelling to develop genetic roadmaps for two of the world’s leading causes of irreversible blindness.

Distorted or blurred sight, black or dark spots and potential loss of vision – these are symptoms of primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD), which are predicted to globally affect more than 110 million people and 288 million people respectively by 2040.

There are no cures and no current definitive treatments for both POAG and for the dry form of AMD – it is simply a matter of trying to preserve people’s vision for as long as possible.


Primary open-angle glaucoma and age-related macular degeneration are growing problems globally. Picture: Getty Images

The exact pathogenic mechanisms ­ – that is, the disease pathways – aren’t well understood, despite intense international research efforts. This has been largely due to our lack of suitable experimental models, making the task of identifying and testing treatments significantly more difficult.

Having access to pathologically-relevant models of human optic nerve or retinal degeneration is crucial for understanding, screening and developing accurate treatment strategies that prevent or slow progression of these blinding diseases.

Human induced pluripotent stem cells (iPSCs) are a powerful tool to investigate these types of conditions.

These stem cells, which we produce by reprogramming somatic cells like skin or blood cells from selected individuals or specific genetic background, can be grown into any specific cell type of interest, to make “a biopsy in a dish” and generate an effective disease model for therapy development.

This is particularly suited to the modelling of optic nerve and retinal conditions, where using patient skin can be made into stem cells and then guided to become the cells affected in glaucoma or AMD. This technique overcomes the difficulties in accessing these tissues in living individuals.

Together with Professor Alex Hewitt from the Centre for Eye Research Australiaand University of Tasmania, and Professor Joseph Powell’s teams at the Garvan Institute of Medical Research, we took this approach in the hope of contributing to the discovery of treatments using a disease model based around patients’ own stem cells.

Read more on Pursuit

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