Dr. Freya Mowat, MSU College of Veterinary Medicine senior ophthalmology resident and post-doctoral research fellow in the Petersen-Jones Laboratory, won the 2014 American College of Veterinary Ophthalmologists (ACVO) award for the best basic science research manuscript by a resident. The award was presented at the 2014 ACVO meeting in Fort Worth, Texas.

The paper reported on research conducted in the Petersen-Jones lab designed to determine the potential benefits and limitations of gene therapy in dogs deficient in the retinal pigment epithelium gene (RPE65). The team was specifically interested in whether the therapy was able to delay degeneration of the cone photoreceptors that are essential for daytime high acuity color vision.

Mutations in the RPE65 gene have been found to cause the genetic eye disease Leber congenital amaurosis, one of the most common causes of blindness in children. Work using the Rpe65-deficient dog model has been critical for human clinical trials to treat this form of Leber congenital amaurosis and has been able to answer important questions about the gene therapy approach and allow for modification of the therapy to improve its efficacy for use in human patients.

The team found that gene therapy preserves both rods and cones. The results suggest that gene therapy may be able to slow cone degeneration in patients if intervention is sufficiently early.

This work done at MSU supports the first human clinical trial to treat Leber congenital amaurosis due to RPE65 gene mutations, conducted by Professors Robin Ali and James Bainbridge at University College London. The findings, reported in Mowat’s award-winning paper, were published in the journal Gene Therapy. [Mowat FM, Breuwer AR, Bartoe JT, Annear MJ, Zhang Z, Smith AJ, Bainbridge JW, Petersen-Jones SM, Ali RR. (2013) RPE65 gene therapy slows cone loss in Rpe65-deficient dogs. Gene Therapy. 20: 545-55.]