Australian Scientists Lead Stem Cell Research Unveiling Detailed Genetic Roadmap for Glaucoma

Stem cell research that has unveiled a detailed genetic roadmap for glaucoma – the world’s leading cause of irreversible blindness – will help scientists develop new drugs to fight the disease by identifying potential target areas to block or reverse loss of vision.

The research, one of the largest and most detailed stem cell modeling studies reported for any disease, is published in Cell genomics.1

According to a press release from the University of Melbourne, by comparing stem cell models of retinal ganglion cells from people with primary open-angle glaucoma to those without, more than 300 new genetic characteristics of these cells were discovered.

The university noted that the findings are the result of a national collaboration led by Alex Hewitt, MD, PhD, (Centre for Eye Research Australia, University of Melbourne and University of Tasmania), Alice Pébay, PhD, and Maciej Daniszewski, PhD, (University of Melbourne) and Anne Senabouth and Joseph Powell, PhD, (Garvan Institute of Medical Research).

Hewitt, head of clinical genetics at CERA, explained in university news

release, the study will lead to a better understanding of the mechanisms that damage retinal ganglion cells and lead to the onset of glaucoma.

The investigators noted that this will help them develop new drugs to fight glaucoma, identifying potential new areas to target to block or reverse vision loss caused by the disease.

Healthy retinal ganglion cells, which transmit visual information from the eye to the brain via the optic nerve, are essential for vision. In glaucoma, the progressive damage and death of these cells leads to a gradual and irreversible decline in sight.

“Glaucoma is often an inherited disease, and comparing diseased retinal ganglion cells with healthy ones is an effective way to increase our understanding of the mechanisms that contribute to vision loss,” Hewitt said. Explain.

Pébay, whose team led the stem cell aspects of this work, added that “until recently this was impossible because you cannot obtain or profile retinal ganglion cells from living donors without an invasive procedure.”

The university noted that to overcome this hurdle, the team used Nobel Prize-winning induced pluripotent stem cell (iPSC) technology to “reprogram” donor-provided skin cells into stem cells that were then processed. transformed into retinal ganglion cells in the laboratory.

They then mapped the individual gene expression of nearly a quarter of a million cells to identify features that could impact how genes are expressed in the cell, impacting its function and potentially contributing to the loss of vision.

The researchers identified 312 unique genetic characteristics in retinal ganglion cell models that warrant further investigation.

“Sequencing identifies which genes are turned on in a cell, their level of activation, and where they are turned on and off — like a road network with traffic lights,” according to Powell, whose team led the analysis of a world-leading data set.

Powell added that the research gives investigators a genetic roadmap for glaucoma and identifies 312 sites in the genome where these lights flash.

“Understanding which of these traffic lights should be turned off or on will be the next step in developing new therapies to prevent glaucoma,” Powell said.

Hewitt, an ophthalmologist, pointed out that the research provides hundreds of new targets for researchers developing new drugs to treat glaucoma, which is expected to affect more than 80 million people worldwide by 2040.

“Current therapies are limited to slowing vision loss by reducing pressure in the eye – but they don’t work for all patients and some people continue to lose many retinal ganglion cells and vision despite having normal eye pressure” , did he declare. “The rich source of genetic information generated by this research is an important first step toward developing new treatments that go beyond lowering eye pressure and can reverse vision damage and loss.”

The research is the result of an extensive national collaboration including researchers from the University of Melbourne, Center for Eye Research Australia, Garvan Institute for Medical Research, QIMR Berghofer Medical Research Institute, St Vincent’s Institute of Medical Research, from St Vincent’s Hospital, Flinders University, Lion’s Eye Institute, Macquarie University, University of Tasmania and University of New South Wales.


Alex Hewitt, MD, Ph.D.; Alice Pebay, PhD; Maciej Daniszewski, PhD; Anne Senabouth; Joseph Powell, Ph.D.; Specific genetic regulation of retinal ganglion cells in primary open-angle glaucoma. Cell genomics; Published; June 8, 2022; do I: 10.1016/j.zxfr2022.100142

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