Using a new experimental technique to fix faulty eye cells, a team led by UW–Madison researchers was able to repair a gene mutation that causes one form of childhood blindness. The scientists showed that their approach worked in lab-grown cells derived from a patient with the currently untreatable inherited disease Leber congenital amaurosis (LCA) and a mouse model that mimics the disease. Bikash Pattnaik, PhD, associate professor, Division of Neonatology and Newborn Nursery, led the research team. Pattnaik Research Group members Meha Kabra, PhD, and Pawan Shahi, PhD, were co-first authors on the study, “Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy,” published in the Journal of Clinical Investigation on August 10, 2023.
Read “New gene-editing technique holds potential for treating childhood blindness,” published by the University of Wisconsin School of Medicine and Public Health on September 29, 2023.