Penn Medicine innovators receive International Award for work to treat childhood blindness
LISBON, PORTUGAL–Three Penn Medicine ophthalmology innovators will receive the 2018 António Champalimaud Vision Award for their revolutionary work leading to the first successful gene therapy to cure an inherited cause of childhood blindness. The Penn recipients are Jean Bennett, MD, PhD, the F.M. Kirby Professor of Ophthalmology; Samuel G. Jacobson, MD, PhD, a professor of Ophthalmology; and Albert M. Maguire, MD, a professor of Ophthalmology, all in the Perelman School of Medicine at the University of Pennsylvania.
This year's award honors seven researchers who share a 1 million Euro prize for scientific advances leading to successful treatment of a condition known as Leber congenital amaurosis (LCA)–a genetic form of retinal blindness–by replacing damaged genes with healthy ones and dramatically improving patients' vision. Their work led to the December 2017 U.S. Food and Drug Administration (FDA) approval of the first gene therapy for an inherited condition.
LCA is a rare genetic eye disorder that results in nearly complete vision loss by about age 40. Infants with the condition have reduced vision at birth and this can be associated with abnormal sensitivity to light and rapid, involuntary eye movements. About 20 versions of the disorder have been discovered to date.
Bennett, Jacobson, and Maguire have each made scientific advances leading to the treatment of LCA. Their breakthrough work began in affected mice and dogs during the 1990s, including work led by the University of Pennsylvania's School of Veterinary Medicine. In 2001, a team including the three award recipients from Penn reported they had successfully restored the sight of three blind dogs with a canine form of LCA. Research efforts took off from there, leading to clinical trials conducted at the Scheie Eye Institute and Children's Hospital of Philadelphia (CHOP). This was followed by the FDA approval. Additional research has led to further breakthroughs toward treating inherited forms of blindness.
"This award recognizes the pioneering work of three remarkable scientists at Penn and many firsts in the field of genetic medicine," said Joan O'Brien, MD, chair of Ophthalmology. "Their dedication and hard work has paved the way for new hope for inherited blindness and demonstrates the potential for future developments in gene therapy."
Bennett is a physician-scientist with expertise in molecular biology and gene therapy studies. She has developed approaches for treating different forms of vision loss and uncovered mechanisms that lead to blindness. Her research has uncovered the scientific underpinnings which made it possible to test the first retinal gene therapy treatment.
Jacobson has more than 35 years of experience as a clinician-scientist in the field of inherited retinal degenerations. His Center for Hereditary Retinal Degeneration focuses on the complex retinal response to genetic injury. He and his colleagues have revealed mechanisms of human retinal degeneration, resulting from mutation in genes.
Maguire, who is married to Bennett, has clinical expertise in the diagnosis and management of vitreoretinal diseases–conditions that affect the back part of the eye. He has a special interest in pediatric and genetic retinal diseases, such as LCA, and developed and carried out all of the surgical procedures leading up to the CHOP and University of Florida clinical trials preceding to the FDA approval. In the process of the clinical trials for the first approved gene therapy, he developed a gene therapy surgical training program which has certified retinal surgeons around the world for retinal gene therapy studies.
The additional 2018 honorees of the award include William W. Hauswirth of the University of Florida College of Medicine; Michael Redmond of National Institutes of Health; and Robin Ali and James Bainbridge of the University College of London. The recipients will use the award to advance their research programs.
The António Champalimaud Vision Award is supported by Vision 2020 – The Right to Sight, a global blindness-prevention initiative launched in collaboration with the World Health Organization and the International Agency for the Prevention of Blindness.
Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $7.8 billion enterprise.
The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $405 million awarded in the 2017 fiscal year.
The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center — which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report — Chester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; Penn Wissahickon Hospice; and Pennsylvania Hospital – the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine, and Princeton House Behavioral Health, a leading provider of highly skilled and compassionate behavioral healthcare.
Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2017, Penn Medicine provided $500 million to benefit our community.