Macular degeneration is the leading cause of vision loss in older adults, but scientists have long struggled to study and replicate key elements of the disease in the lab. A study published in the Proceedings of the National Academy of Sciences is the first to demonstrate hallmarks of macular degeneration in a new human stem cell model developed by researchers at the University of Rochester Medical Center.
This new model could make whole new avenues of macular degeneration research possible and has helped the team hone in on some possible drug targets for the disease.
"So far, there has not been a patient-derived model of macular degeneration," said Ruchira Singh, Ph.D., assistant professor of Ophthalmology in the Flaum Eye Institute at URMC and lead author of the study. "It was not known if you can take cells from the human eye and make a cell model that displays the hallmarks of the disease."
Though macular diseases can vary widely, age-related and similar inherited macular degenerative diseases are all characterized by buildup of debris in the retina, the light sensing tissue in the back of the eye that is crucial for vision. These deposits, called drusen, are specifically found beneath a layer of retinal pigment epithelium (RPE) cells, which are known to be key players in macular degeneration.
For their new model, Singh's team collected skin cells from patients with genetic forms of macular degeneration, re-programmed them to stem cells, and used the stem cells to create RPE cells. RPE cells derived from patients mimicked several characteristics of macular degeneration when aged in a dish, like producing the hallmark deposits.