Dr. Steven F. Grieco from University of California awarded $70,000 Knights Templar Eye Foundation Grant for Amblyopia Research

Dr. Steven F. Grieco from the University of California, Irvine was awarded a $70,000 grant for his research entitled: Neurotherapeutic Intervention for Amblyopia

Amblyopia, aka ‘lazy eye’, is the leading cause of visual impairment, affecting ~1% of the population worldwide. It is most-often caused by a misalignment of the eyes during a childhood developmental ‘critical period’ for binocular vision. Because of a mismatch in the quality of vision for each eye during this period, the brain learns to ‘ignore’ the worse eye, resulting in a permanent loss of vision. After ~6-9 years of age in humans, there is no cure for this. Dr. Grieco recently found in pre-clinical studies that a neurotherapeutic induces visual system neuroplasticity and reverses the effects of amblyopia to restore vision. The goal of the study proposed herein, is to build mechanistically and translationally on the applicant’s finding. In support of the Knights Templar Eye Foundation’s (KTEF) commitment to the understanding, prevention and cure of pediatric diseases threatening vision, this project will determine how a neurotherapeutic ‘rewires’ the visual system to treat pediatric amblyopia and will help launch the career of a basic neuroscience investigator.

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.