University of Pennsylvania, NIH Vision Researchers Win Helen Keller Prize

The awards were presented during a dinner and ceremony at the National World War II Museum during the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), the largest vision research conference in the world.

The annual prize recognizes research excellence as demonstrated by several significant professional research contributions to vision science or for a single research contribution of exceptional importance to vision science and is chosen by an international panel of biomedical physicians and researchers.

This year’s Laureates are being recognized for their outstanding accomplishments in restoring vision through gene therapy.

“By identifying a defective gene vital to vision, and by injecting a competent replacement gene in the eye, leading to the restoration of vision, the 2023 Helen Keller Laureates have ushered in an era of gene therapy that was once unimaginable,” said Robert Morris, President, The Helen Keller Foundation for Research and Education.

“The 2023 Laureates demonstrate that research is the only key to prevent and treat neurodegenerative eye diseases and cure blindness,” said Stacy Haller, President and CEO, BrightFocus Foundation.

About the 2023 Laureates

Gustavo D. Aguirre, DVM, PhD (University of Pennsylvania, School of Veterinary Medicine)—Dr. Aguirre works with animal models of inherited eye and retinal degeneration. His lab focuses on model identification, disease gene discovery, establishing disease metrics and defining molecular pathways linking the gene and mutation to the disease. Since 2000, his work has focused on developing gene-based and other therapies for translational applications. His research has led to the proof-of-concept studies that AAV-mediated RPE65 gene therapy reversed a congenital blinding disorder of children, Leber congenital amaurosis. This then led to several clinical trials and eventual commercialization of the therapy. Two of his other gene therapy studies in the animal model are in Phase 3 clinical trials, and two others are in the IND enabling pathway.

Jean Bennett, MD, PhD (University of Pennsylvania, Perelman School of Medicine)—Dr. Bennett has spent the past three decades developing gene-based strategies for treating inherited retinal degenerations. There she has run a true bench-to-bedside translational research program and, in the process, has trained hundreds of physician-scientists, many of whom are now leaders in translational research around the globe. She was the scientific director of clinical studies that led to the first FDA-approved gene therapy for a genetic disease (blindness due to RPE65 deficiency). She helped develop the primary outcome measure for the trial that led in 2017 to the first US FDA-approved gene therapy product. It also led to approval of the reagent, Luxturna, by the European Medicines Agency.

Samuel G. Jacobson, MD, PhD (University of Pennsylvania, Perelman School of Medicine)—Dr. Jacobson’s work elucidated mechanisms of human retinal degeneration, resulting from mutation in genes such as Rhodopsin, Peripherin/RDS, RPGR, RPE65, CRB1, RDH12, USH genotypes, BEST1, BBS1, CHM, CEP290, NPHP5, SPATA7, EYS and NR2E3. He led efforts to develop novel non-invasive methods to quantify photoreceptor function and structure including the development of the full-field stimulus test (FST), now a standard for monitoring patients in many studies of the natural history and treatment of retinal degeneration.

Albert M. Maguire, MD (University of Pennsylvania, Perelman School of Medicine)—Dr. Maguire has devoted his research career to the conduct of gene therapy translational studies. His research and clinical expertise made it possible to test the first definitive retinal gene therapy treatment for patients with blinding retinal degenerations. He developed the methodology and carried out most of the preclinical surgical small and large animal gene therapy surgeries. Those studies yielded the safety and efficacy results that enabled progression to clinical trials for teams developing gene therapy for RPE65 deficiency. He served as Principal Investigator for the Phase 1-III gene therapy trials that led to the first USA FDA-approved in vivo gene therapy product (Luxturna™ 2017), a product now administered in numerous countries.

T. Michael Redmond, PhD (National Eye Institute)—Dr. Redmond is best known for his identification of RPE65 retinol isomerase, which had been newly discovered by him and his group as he started his laboratory. Following their initial biochemical characterization of RPE65, Dr. Redmond and his co-workers demonstrated RPE65’s essential role in vision, being among the first to show that mutations in the human RPE65 gene cause Leber congenital amaurosis (LCA), with early onset severe blindness. He went on to show that RPE65 is necessary for the all-trans to 11-cis isomerization of vitamin A in retinal pigment epithelium (RPE), and that RPE65 is the actual and crucial retinol isomerase enzyme of the visual cycle. These studies helped provide a basic framework upon which subsequent successful RPE65 gene augmentation studies have been based.

About BrightFocus Foundation

BrightFocus Foundation is a premier nonprofit funder of research to defeat Alzheimer’s, macular degeneration, and glaucoma. Through its flagship research programs—Alzheimer’s Disease Research, National Glaucoma Research, and Macular Degeneration Research—the Foundation is currently supporting a $75 million portfolio of 287 scientific projects worldwide. BrightFocus has awarded nearly $300 million in groundbreaking research funding over the past 50 years and shares the latest research findings, expert information, and English/Spanish disease resources to empower the millions impacted by these devastating diseases.  Learn more at Brightfocus.org.

About Helen Keller Foundation for Research and Education

Based on the legacy of Helen Keller, the Helen Keller Foundation for Research and Education strives to prevent blindness and deafness by advancing research and education. The Foundation aspires to be a leader in integrating sight, speech, and hearing research with the greater biomedical research community, creating and coordinating a peer-reviewed, worldwide network of investigators and institutions.

Media Contacts

Kaci Baez
BrightFocus Foundation
kbaez@brightfocus.org
301-556-9370

Laura Beckwith
Chief Operating Officer, Helen Keller Foundation for Research and Education
(205) 933-9389
lbeckwith@helenkellerfoundation.org