Cells from Skin Create Model of Blinding Eye Disease

For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.

Dr. David Gamm, director of the University of Wisconsin-Madison’s McPherson Eye Research Institute, said that while Best disease is relatively rare, having a patient-specific model of the eye disease, which destroys the macula of the retina, could lead to a greater understanding of more common eye disorders such as age-related macular degeneration.

“This model gives us a chance to understand the biological effects of human gene mutations in a relatively expeditious manner,” says Gamm, associate professor of ophthalmology and visual sciences and pediatrics at the UW School of Medicine and Public Health. “Ultimately, we hope the model will help us craft treatments to slow or reverse the course of Best disease.”