4 4 Macula Vision Research Foundation Spring/Summer 2017 A Summary of Dr. Aguirre’s Award winning work Vitelliform macular dystrophy, also known as Best disease, is one of a group of vision rob- bing conditions called bestrophinopathies that affect children and young adults. Caused by inherited mutations in the BEST1 gene, these diseases cause severe declines in central vision as patients age. With a new study, University of Pennsylvania researchers report “encouraging” findings that mark the first clear step in developing a gene therapy that could prevent vision loss or even restore vision in individuals suffering from these conditions. The research, conducted in dogs, which can naturally develop a disease similar to Best disease, was led by Karina E. Guziewicz and Gustavo D. Aguirre of Penn’s School of Veterinary Medicine. Penn Vet collaborators included Barbara Zangerl, Andras M. Komaromy, Simone Iwabe and William A. Beltran.The Penn team worked with University of Florida investigators Vincent A. Chiodo, Sanford L. Boye and William W. Hauswirth. They reported their findings in the journal PLOS ONE. “Step one in designing a gene therapy for these conditions is to make sure that we can target the cells that are affected,” Aguirre said. “That’s what our study has done.” Aguirre’s lab has previously designed successful therapeutics for other forms of blindness that strike both dogs and humans, including retinitis pigmentosa, Leber congenital amaurosis and achromatopsia. The “dog version” of Best disease is called canine multifocal retinopathy (CMR), and shares many of the hallmarks of the human condition. Knowing that Best disease and A SALUte to An mvrf grAntee gustavo Aguirre, vmD, PhD, fArvo University of Pennsylvania School of veterinary medicine 2017 Arvo Proctor medal recipient From day one, MVRF has been committed to award funding to the best of the best and with no ties to any one institution, our research dollars are directed to the most promising ideas. We have stayed true to this in the twenty years since our founding, and we will continue to do so as we move closer and closer to a cure. In this spirit, we congratulate Dr. Gustavo “Gus”Aguirre, an MVRF-grantee and this year’s Proctor Medal Recipient1 , for his exceptional contributions to the ophthalmology and visual science fields. His most recent work demonstrates that gene therapy can successfully arrest advanced photoreceptor and vision loss, significantly expanding the therapeutic window to late stages of disease. MVRF is proud and honored to have provided funding in support of this research project. We wish Dr. Aguirre and his team success on their path to more groundbreaking discoveries.