Scientists researching retinal disease look for models that help them study the nature and treatment of particular conditions. They might use cells in a Petri dish or genetically engineered mice, to study how vision is lost, which cells degenerate, and why. Then they evaluate potential therapeutic approaches that can then be used in a human study. In the last two decades researchers at the University of Pennsylvania School of Veterinary Sciences (Penn Vet) have established more than two dozen canine models for studying retinal therapies, making major contributions to the advancement of therapies for inherited retinal diseases.
Some researchers funded by the Foundation Fighting Blindness have found a canine model of Leber congenital amaurosis (LCA) caused by mutations in the gene NPHP5 that is very similar to LCA in humans with mutations in the same gene. The retinal degeneration in both the dogs and humans is very similar, though humans with the gene mutations have renal dysfunction and the humans do not.
The Penn Vet researchers have been able to preserve vision and retinal structure in early stages of diseases in dogs, says Dr. Gus Aguire. Aguire, along with William Beltran at the School of Veterinary Medicine, and Samuel Jacobson and Artur Cideciyan from the Scheie Eye Institute, are testing gene therapy approaches to slow or halt vision loss or possibly improve vision in humans and have already had some success in canines.
This blog is adapted from the Foundation Fighting Blindness blog
For more information on Penn Vet’s work, visit their website.