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February 25, 2021

Gong collaborating on project to restore vision by fixing genetic mutations

Written By: Staff


Shaoqin (Sarah) Gong
Shaoqin (Sarah) Gong

Shaoqin (Sarah) Gong, a Vilas Distinguished Professor of biomedical engineering, is part of a University of Wisconsin-Madison research team developing and testing a new therapy for restoring vision in patients with severe visual impairment or blindness due to certain kinds of retinal disorders.

The project, funded by a five-year, $7.7 million award from the National Institutes of Health’s National Eye Institute, will rely on an approach aimed at correcting nonsense mutations in DNA. These mutations improperly tell cells to stop reading the genetic instructions to create proteins, leading to proteins that are too short or otherwise dysfunctional.

Nonsense mutations are responsible for about 15 percent of inherited retinopathies and other inherited human diseases. In the eye, these mutations can cause severe disease and, if left untreated, can result in significant visual impairment and blindness.

The researchers, in collaboration with colleagues at the University of Iowa, will use something called anticodon edited transfer RNA to swap the correct instructions, or amino acids, in place of the nonsense mutations. There are very few human clinical trials at present exploring therapies for nonsense mutations, but the researchers say that newer technologies, such as the nucleic-acid therapy they are exploring, offer the potential to be both safe and effective. There are no approved drugs currently aimed at treating these kinds of defects.

Bikash Pattnaik, an assistant professor of pediatrics and ophthalmology and visual sciences at the McPherson Eye Research Institute and the UW-Madison School of Medicine and Public Health, is leading the project. Along with Gong, other collaborators include David Gamm, professor of ophthalmology and visual sciences and director of the McPherson Eye Research Institute and Christopher Ahern, a UW-Madison alumnus and professor of molecular physiology and biophysics at the Iowa Neuroscience Institute.