Dalhousie Medical School researchers believe they’ve discovered a drug that will prevent babies born with a genetic blinding disease called Familial Exudative Vitreoretinopathy (FEVR) from losing their vision.
“We’ve got what we think is a very good drug,” says Dr. Chris McMaster, professor and head of the Department of Pharmacology. “It can cure animal models. Now we have to figure out the right dose and ensure its safety before administering it to kids.”
From gene to therapy
When Halifax ophthalmologist Dr. Johane Robitaille and her team discovered the FEVR gene in 2002, it was a major breakthrough that generated international buzz. She found that when the gene is mutated, veins and arteries in the retina aren’t able to develop properly. Identifying this gene allowed scientists to start looking for ways to repair the mutation.
“One of the nice things about discovering the gene is that it tells you, biochemically, what goes wrong,” says Dr. McMaster. “Once you know what goes wrong, you can start hypothesizing what you need to tweak in order to fix the problem, which is the first step in drug discovery.”
“This drug would enable the vessels in the retina to grow and complete their development,” says Dr. Robitaille, a professor in the Department of Ophthalmology & Visual Sciences who specializes in ocular genetics. “We can facilitate that with this therapy, so that we can prevent the FEVR-related complications from happening. It would work directly against the pathology that causes the blindness.”