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Vision researchers honored by End Blindness 2020 | Penn Today – Penn Today

December 16th, 2020 1:53 am

Three University of Pennsylvania researchers have been honored by The Sanford and Sue Greenberg Prize to End Blindness by 2020 for their research, which led to the first Food and Drug Administration-approved gene therapy for a genetic disease. Gustavo D. Aguirre of the School of Veterinary Medicine and Jean Bennett and Albert M. Maguire of the Perelman School of Medicine, together with William Hauswirth of the University of Florida, are recipients of the Outstanding Achievement Prize, to be awarded in a virtual ceremony today.

The four scientists share a $1 million prize, funds that will go to support further laboratory and clinical research that advances vision science. Together, their workgoing from an animal model of disease to human clinical trialsled to an FDA-approved gene therapy for Leber congenital amaurosis (LCA) caused by a mutation in the RPE65 gene, a retinal disease that causes visual impairments beginning in infancy. Now commercialized and used routinely, this treatment has reversed blindness and spared the vision of children and adults around the world.

The researchers are among 13 recipients of a total of $3 million from the End Blindness by 2020 initiative, originated by Sanford Greenberg, an

inventor, entrepreneur, and investor who serves as chairman of the board of the Johns Hopkins University Wilmer Eye Institute and who lost his sight at the age of 19 due to disease.

Gustavo D. Aguirre is professor of medical genetics and ophthalmology in the School of Veterinary Medicine. His internationally renowned research, generated during more than four decades, has investigated the genetic basis of a variety of inherited vision disorders, including LCA, Best disease, achromatopsia, and retinitis pigmentosa. His work on novel gene therapy approaches to treatment, which deliver to the eye a functional copy of a gene that is otherwise dysfunctional, has restored vision in animal models of X-linked retinitis pigmentosa and LCA. Aguirre, who earned his V.M.D. and Ph.D. from Penn, is a fellow of the Association for Research in Vision and Ophthalmology and a member of the National Academy of Medicine, College of Physicians of Philadelphia, and American Association for the Advancement of Science. He is also a recipient of the Louis Braille Award, Proctor Medal, and Foundation Fighting Blindess Board of Directors Award, among other honors.

Jean Bennett is the F.M. Kirby Professor of Ophthalmology in the Perelman School of Medicine. She is an internationally-recognized pioneer in gene therapy and has dedicated her career to restoring eyesight in the blind. Bennett earned a Ph.D. in zoology and cell and development biology from the University of California, Berkeley, and a medical degree from Harvard University, where she met her future husband and research collaborator, Albert M. Maguire. She has developed a number of strategies for gene therapy-mediated treatments for retinal disease. Her research is focused on the molecular genetics of inherited retinal degenerations in order to develop rational approaches for treating blindness. In addition to the eye, projects in Bennett's laboratory target other diseases/organs suffering from mutations in cilia proteins, including the ear and the kidney.

Albert M. Maguire is a professor of ophthalmology in the Perelman School of Medicine and an attending physician in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia. He earned his medical degree from Harvard University, completed an internship in surgery at Yale-New Haven Hospital, a residency at Johns Hopkins Hospital, and a fellowship at the William Beaumont Hospital in Royal Oaks, Michigan. Maguire specializes in the diagnosis and treatment of pediatric retinal diseases. His research interests involve the development of treatments for incurable retinal degenerative disease, including LCA.

The hourlong streamed ceremony, freely accessible at http://www.EndBlindness2020.com, will feature Art Garfunkel, Margaret Atwood, Al Gore, Michael Bloomberg, U.S. Sen. Chris Coons, and musical performances. It will also feature a tribute to the late U.S. Supreme Court Justice Ruth Bader Ginsburg, a longtime supporter of the End Blindness movement, including exclusive footage of Ginsburg reading from Hello Darkness, My Old Friend, the memoir of Sanford Greenberg.

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Vision researchers honored by End Blindness 2020 | Penn Today - Penn Today

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