IU receives $1.9 million grant to investigate effects of congenital birth defects and age on the eye

A $1.9 million grant to Indiana University from the National Institutes of Health's National Eye Institute will advance basic research on the eye with applications to blindness caused by genetic disorders and aging.

The five-year award to Andrew Zelhof will investigate the effect of both congenital birth defects and age on the eye using insects as a model species. Zelhof is an associate professor in the IU Bloomington College of Arts and Sciences' Department of Biology.

"The basic genetic insights from these experiments will address issues common to all photoreceptors across taxa, from flies to humans," Zelhof said. "Understanding the functional blueprints for designing ways to see -- and the genes required for these designs -- will have a direct impact on our basic knowledge regarding the comparative biology of visual systems."

Congenital eye defects, which are genetic errors present at birth, are estimated to affect about 1 in 5,300 infants born in the United States, according to the Centers for Disease Control and Prevention. The CDC also estimates 28.6 million Americans suffer from an age-related eye disease or vision impairment, with that number expected to increase another 15 million by 2020.

The early-stage research supported under the NIH grant will focus on studying cellular and molecular mechanisms in the eyes of Drosophila melanogaster, a species of fruit fly. Research on Drosophila can provide important new insights into human eyes due to the highly conserved nature of these mechanisms in flies and humans, which possess approximately 70 percent of the same genes.

Zelhof's previous research, for example, has shown that the protein known as prominin-1 plays a role in the development of fruit fly photoreceptors, which could lead to applications for the treatment of prominin-induced human retinal degeneration as well as autosomal recessive retinitis pigmentosa, an inherited eye disorder that causes tunnel vision and eventual blindness.

The new research at IU will develop a more robust model of the mechanisms that drive both this retinal degeneration and synaptogenesis. Synaptogenesis is transfer of information between the light-sensing photoreceptors to the higher-order neurons of the brain that play a role transforming these light impulses into images.

"If we can find a critical conserved end point in photoreceptor development, it will help provide a foundation for the expansion and implementation of therapies to correct retinal congenital defects, as well as contribute towards new intervention or prevention methods in retinal degeneration through aging," Zelhof said.