Dr. Marcela Garita-Hernandez from Harvard Medical School awarded $70,000 Knights Templar Eye Foundation Grant for Leber Congenital Amaurosis Research

Dr. Marcela Garita-Hernandez from Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts was awarded a $70,000 grant entitled: Modeling NMNAT1-Associated Early Onset Retinal Degeneration Using hiPSC-Derived Retinal Organoids

Blindness can be caused by mutations affecting the different cells of the retina. One of these cell types are the photoreceptors, which are the specialized neurons which convert light signals into electrical information that travels to the brain allowing us to see. Work in Dr. Garita-Hernandez’s lab identified a gene called NMNAT1 to be involved in an early type of retinal degeneration known as Leber Congenital Amaurosis (LCA). Despite being needed in all cells of the body, mutations in NMNAT1 cause almost exclusively the death of photoreceptor cells, causing a severe vision loss since birth. Human induced pluripotent stem cells (hiPSC) have the potential to differentiate into photoreceptors and other cells of the retina mimicking retinal development. The aim of this study is to generate a human model of NMNAT1-associated early onset retinal degeneration using hiPSC and determine why photoreceptors are particularly sensitive to alterations in NMNAT1 gene. To do this, Dr. Garita-Hernanez will edit the DNA of hiPSC to introduce an NMNAT1 mutation found in patients. She will then generate photoreceptors from the hiPSC and compare the gene expression in the sick photoreceptors compared to those of healthy controls to help understand the disease better to design therapies for NMNAT1-associated LCA.