Dr. Emily R. Sechrest from West Virginia University Awarded $90,000 Knights Templar Eye Foundation Grant for Blue Cone Monochromacy Research

Dr. Emily R. Sechrest from West Virginia University located in Morgantown, West Virginia was awarded a grant for $90,000 for the research entitled: Disease mechanism of blue cone monochromacy and gene therapy approaches to extend the therapeutic window.

The fovea in the human retina is comprised mainly of two types of cone photoreceptors – L- and M-cones – and is responsible for our high acuity, color, daytime vision. Blue cone monochromacy (BCM), is an inherited visual disorder that occurs when these cones do not function properly due to mutations in the genes that encode their highly important light-absorbing opsin proteins (Land M- opsin). From birth, patients with BCM experience reduced visual acuity, extreme light sensitivity, infantile nystagmus (involuntary eye movement), and myopia (near-sightedness). Unfortunately, to date, no effective treatment is available for this condition. Dr. Sechrest has observed that gene therapy can rescue visual function in cones when treated early, but is ineffective when administered at older ages in two mouse models of BCM. Investigating the molecular changes between young and aged cones will provide insight into why the therapeutic window is limited in BCM cones and broadly in other cone degenerative diseases. She plans to target a signaling pathway for the resident immune cell of the retina, in order to delay cone degeneration, with the goal of improving long-term rescue following gene therapy. Together, these studies will allow for development of new strategies to extend the therapeutic window in order to treat patients with BCM at all ages (infant to adult), as well as therapy longevity for treatment of BCM.