Researchers Discover New Insights into Retina's Genetic Code
Australian research has resulted in the creation of the most comprehensive human retina gene map in the world, offering fresh perspectives that will assist avoid and treat blindness in future studies. The retina is the newest component of the human body and the first part of the eye to be mapped as part of the Human Cell Atlas Project, a worldwide project to generate reference maps of all human cells to better comprehend, diagnose and treat illness.
The study, led by Dr Raymond Wong from the Centre for Eye Research Australia and the University of Melbourne, Dr Samuel Lukowski from the Institute for Molecular Bioscience at the University of Queensland and Associate Professor Joseph Powell from the Garvan Institute of Medical Research, is published in the European Molecular Biological Organisation (EMBO) Journal. Dr Wong says the study provides unprecedented insights into the genetic signals of cells in the retina – the thin layer of cells at the back of the eye that sense light and send messages to the brain via the optic nerve to enable us to see. The group examined the complex genetic sequences behind more than 20,000 individual cells to develop a profile of all major cell types in the retina and the genes they ‘express’ to function normally.
The mapped cells include photoreceptors that sense light and enable individuals to see, the retinal ganglion cells that convey messages to the brain along the optic nerve and other cells that promote the retina's function and stability.
“By creating a genetic map of the human retina, we can understand the factors that enable cells to keep functioning and contribute to healthy vision,’’ says Dr Wong. “It can also help us understand the genetic signals that cause a cell to stop functioning, leading to vision loss and blindness.’’
Associate Professor Powell says the retinal cell atlas will benefit researchers investigating Inherited Retinal Diseases, which occur when genetic ‘mistakes’ cause retinal cells to stop functioning, leading to vision loss and blindness. “More than 200 genes are known to be associated with retinal diseases and having a detailed gene profile of individual retinal cell types, will help us study how those genes impact on different kinds of cells. This understanding is the first step to better identifying what causes disease and ultimately developing treatments.’’
Dr Wong says the atlas will also help scientists conducting research in the emerging area of cell therapy – which could replace faulty retinal cells with new ones developed from induced pluripotent stem cells in the lab. “The retinal cell atlas will give scientists a clear benchmark to assess the quality of the cells derived from stem cells to determine whether they have the correct genetic code which will enable them to function.’’
Dr Lukowski says the research offers ‘extraordinary potential’. “We can now build upon this atlas of healthy cells with those from other retinal diseases and across different stages of human development, which will provide the community with powerful tools for disease prediction,” he says.
