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Researchers find detailed genetic roadmap of glaucoma

by Pragati Singh

The University of Melbourne discovered a thorough generic glaucoma roadmap. The blueprint will assist scientists in developing new medications to tackle the condition.

The findings were reported in the journal ‘Cell Genomics.’ More than 300 unique genetic characteristics of retinal ganglion cells were discovered by comparing stem cell models of persons with Primary Open Angle Glaucoma to those without the condition.

The findings are the result of a national collaboration led by Professor Alex Hewitt (Centre for Eye Research Australia, University of Melbourne, and University of Tasmania), Professor Alice Pebay and Dr Maciej Daniszewski (University of Melbourne), and Ms Anne Senabouth and Professor Joseph Powell (Centre for Eye Research Australia, University of Melbourne, and University of Tasmania) (Garvan Institute of Medical Research).

According to Professor Hewitt, Head of Clinical Genetics at CERA, the study will lead to a better understanding of the processes that destroy retinal ganglion cells and cause glaucoma to develop.

This will aid researchers in developing novel glaucoma medications by identifying potential new regions to target in order to slow or reverse vision loss. Healthy retinal ganglion cells are required for vision because they transfer visual information from the eye to the brain through the optic nerve. The slow damage and death of these cells in glaucoma results in a cumulative, permanent loss of vision.

“Glaucoma is often an inherited condition and comparing diseased retinal ganglion cells with healthy one is an effective way to increase our understanding of the mechanisms that contribute to vision loss,” says Professor Hewitt.

Professor Pebay, whose team lead the stem cell aspects of this work, says: “Until recently that’s been impossible because you cannot obtain or profile retinal ganglion cells from living donors without an invasive procedure.” caused by the disease.

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To overcome this obstacle, the researchers employed Nobel Prize-winning induced pluripotent stem cell (iPSC) technology to’reprogram’ skin cells donated by donors into stem cells, which were subsequently transformed into retinal ganglion cells in the lab.

They then mapped the individual genetic expression of nearly a quarter-million cells to uncover traits that might influence how genes are expressed in the cell, so affecting its function and perhaps leading to eyesight loss.

312 genetic sites of Glaucoma

The researchers discovered 312 distinct genetic characteristics in retinal ganglion cell models that need additional study.

“The 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,” says Professor Powell, whose team led the analysis of world leading dataset.
“This research gives us a genetic roadmap of glaucoma and identifies 312 sites in the genome where these lights are blinking.

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

Professor Hewitt, an ophthalmologist, says the research provides hundreds of new targets for researchers developing new drugs to treat glaucoma which is predicted to affect more than 80 million people globally by 2040.

“Current therapies are limited to slowing vision loss by reducing pressure in the eye — but they do not work for all patients and some people continue to lose many retinal ganglion cells and vision despite having normal eye pressure.

“The rich source of genetic information generated by this research is an important first step towards developing new treatments that go beyond lowering eye pressure and can reverse damage and vision loss.”

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