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Researchers at the University of Pennsylvania in Philadelphia, Pa., and a group of brave dogs may have brought scientists one step … or paw .. closer to providing gene therapy for patients living with a condition called macular dystrophy that can rob people of their sight.
The Penn researchers reported “encouraging” findings recently from a study they conducted with dogs who developed develop a disease similar to Vitelliform macular dystrophy, also known as Best disease. Best disease in both human and canine forms are caused by a single mutated gene known as the Best1 gene. Best Disease strikes children and young adults and can cause severe declines in central vision as patients age. The researchers are working to figure out how to replace the mutated gene in with a healthy version of the Best1 gene.
Penn scientists injected sample genes into the eyes of dogs by using a vector called rAAV2/2, which is a harmless virus genetically modified to carry specific genetic materials. They found that this particular vector reached its its intended location and delivered the gene without causing damage to the dog’s eyes.
“Step one in designing a gene therapy for these conditions is to make sure that we can target the cells that are affected,” said one of the project leaders, Gustavo Aguirre, VMD, of the University of Pennsylvania, in a news release. “That’s what our study has done.”