The use of canine models to develop translational gene therapies for the treatment of six forms of inherited retinal degenerations

Abstract

Identification of genetic mutations responsible for inherited retinal degenerations in a variety of breeds of dogs, coupled with phenotypic characterization of the natural history of disease has provided large animal models that have had a significant impact in translating preclinical discoveries in retinal gene therapies to humans. More than 20 years ago, proof of concept studies conducted in a dog model of childhood blindness led to the first retinal gene therapy to receive market approval in the US and EU. Since this first breakthrough success, vision scientists from the Schools of Veterinary Medicine and Medicine of the University of Pennsylvania have pursued the use of patient-relevant canine models to test and move to the clinic novel retinal gene therapies for five additional diseases. Key-Words: dog, canine model, retina, degeneration, dystrophy, gene therapy