Creating an effective gene therapy for inherited diseases requires three key steps.
Creating an effective gene therapy for inherited diseases requires three key steps. First, scientists must identify and characterize the disease. Second, they must find the gene responsible. And finally, they must find a way to correct the impairment.
Four years ago, a team from the University of Pennsylvania, in collaboration with a group from Japan, ticked the first box of that checklist with regard to a form of congenital night blindness in dogs. Now, in a paper in the journal Scientific Reports, they announce success in the second stage: they’ve identified the gene responsible.
“We have indeed nailed down the exact genetic mutation that is causing this disease,” says Keiko Miyadera, an assistant professor of ophthalmology at Penn’s School of Veterinary Medicine and the senior author on the paper. “The next stage is to work on treating this condition; that is to come, and we’re very excited about it.”
Read more at University of Pennsylvania
Image: Research led by Penn Vet scientists has revealed the gene underlying a form of night blindess that affects dogs. Dogs with the mutation in theLRIT3 gene (right panels) have less of the resulting protein (labeled yellow-green) in the tips of the retina's ON-bipolar cells than unaffected dogs (left panels). CREDIT: Penn Vet
