Dr. Elizabeth Simpson has been awarded a research grant from Fighting Blindness Canada.
One of six grants funded in 2020, the awards honour researchers working on blinding eye diseases.
Elizabeth Simpson
Simpson, a professor in the faculty of medicine’s department of medical genetics, was awarded the $296,747 grant for her project, entitled “Using gene therapy to treat congenital blindness.”
Her team is working on a novel treatment for aniridia, an eye disorder where the iris is partially or completely absent. Simpson, also an associate member of the departments of psychiatry and ophthalmology and visual sciences, is looking to gene therapy for a possible solution to this disorder.
People with aniridia usually have low vision from birth and develop glaucoma and cataracts, which can lead to blindness. While current treatments may slow the progression of the disorder, there are no cures or treatments to maintain vision long term.
“I, along with my team, am thrilled to have this opportunity to explore a new approach to treatment of childhood blindness,” Simpson said. “Its success will strengthen the foundation for a similar approach in children with genetic blindness and other genetic diseases.”
The majority of aniridia cases are caused by a mutation in the PAX6 gene, which plays an important role in eye development. Simpson’s team will use gene therapy to put a functioning copy of the PAX6 gene back into the eye of mice who have a mutation in that gene and assess whether this improves or restores vision. This research is a leap forward in the search to cure aniridia and will also provide important information to help scientists working on gene therapies for other eye diseases.
Learn more about the Fighting Blindness Canada research grants here.