WSU Receives $1.9M NIH Grant to Study Genetic Blindness


A team of researchers at Detroit’s Wayne State University have received a $1.9-million grant from the National Institute of Health and the National Eye Institute to better understand several rare genetic disorders that can cause blindness. Specifically, the study will examine leukodystrophies (LD) and genetic Leukoencephalopathies (gLE), which affect myelin, the white matter in the central nervous system.

LD and gLE disrupt the growth and maintenance of the myelin sheath, affecting motor and sensory systems and often causing vision to worsen until it is lost. Most leukodystrophies are genetic, but many of the genes that cause the disease are currently unknown.

The WSU team, led by Ryan THummel, assistant professor of anatomy and cell biology and ophthalmology in Wayne State’s School of Medicine, recently discovered that a mutation in Vacuolar Protein Sorting 11 (VPS11) is a cause of a type of leukoenephalopathy. The team will use a previously characterized zebrafish mutant line of vacuolar protein sorting to better understand the progression and model for the disease, with a special focus on progressive vision loss.

“Zebrafish are a highly suited model for this disease and can be used to test behavioral and biological aspects of the disease,” says Thummel. “In addition, given their small size and large number of offspring, they are highly amenable to use in a screen for compounds that rescue the disease. Finally, with the expertise of Dr. Skoff, we will develop a mammalian brain cell culture technique to analyze how defects in VPS11 effect myelin formation and support of adjacent neurons.”

Thummel adds that one in 8,000 individuals suffers from vision loss associated with LD and gLE. The results from their research study are expected to provide insight into how disrupted protein trafficking can lead to white matter diseases and provide therapeutic targets.