LOS ANGELES- Their discovery started with a group of blind dogs living at a vet school. Now, the work has been awarded the prestigious Breakthrough Prize at the "Oscars of Science."
Today, Jean Bennett, MD, PHD, and Albert Maguire, MD, both emeritus professors of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania, and Katherine High, MD, an emeritus professor of Pediatrics and the founding director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at Children's Hospital of Philadelphia (CHOP), received the Breakthrough Prize in Life Sciences for their work in developing the first FDA-approved gene therapy for an inherited condition, which dramatically improves sight in people with a form of blindness called Leber Congenital Amaurosis (LCA).
Their work blazed a trail for the more than 140 gene therapy trials for retinal conditions, including macular degeneration and diabetic retinopathy, diseases that collectively impact about 30 million people in the US. Eighty more trials are currently underway.
"Even 20 years ago, treating people with gene therapy was seen by some as an impossibility," said Jonathan Epstein, MD, dean of the Perelman School of Medicine and executive vice president of the University of Pennsylvania for the Health System. "But this group of incredible physician-scientists persisted and created something that is providing sight to people who would have been completely blind as early as kindergarten. Their belief in the power of life-changing science has led to breathtaking results and richly deserved global recognition."
The Breakthrough Prizes are called the "Oscars of Science" for their high-profile celebration of research and support from celebrities spanning numerous areas of pop culture. Created in 2012 by Sergey Brin, Priscilla Chan and Mark Zuckerberg, Yuri and Julia Milner, and Anne Wojcicki, the prizes are given out in five categories including Life Sciences, Fundamental Physics, and Math, each with an accompanying $3 million award.
This year's accolade now means that nine Penn-affiliated researchers have received the Breakthrough Prize, tied for the most with Harvard University. The prior Penn Medicine award winners are Carl June, PhD (2024), Drew Weissman, MD, PhD, and Katalin Karikó, PhD (2022), and Virginia M.Y. Lee, PhD (2019). Additionally, Penn faculty members Charles Kane, PhD, and Eugene Mele, PhD, won the prize for Physics in 2019. Mathew Madhavacheril, PhD, an assistant professor of Physics and Astronomy in Penn's School of Arts & Sciences, also received recognition at this year's Breakthrough Prize ceremony when he was honored with the New Horizons in Physics award, given to researchers early in their careers.
"Science is rarely a straight path, and those who make the most profound discoveries are resilient and persistent, overcoming obstacles along the way," said J. Larry Jameson, MD, PhD, president of the University of Pennsylvania. "That is exactly what I see in this year's awardees, and it has been true of all our remarkable faculty who have been recognized for scientific breakthroughs. Whether they are discovering what lies beneath Alzheimer's Disease, curing cancer by engineering a patients' own immune cells, or reversing blindness-they have persisted with imagination and rigor. Their steadfastness has pushed the boundaries of what medicine can achieve."
"Developing cell and gene therapies has long been a top priority for our organization," said Madeline Bell, CHOP's CEO. "This breakthrough is the result of decades of investment and collaboration, and reflects our commitment to translating scientific discoveries into therapies that will transform patients' lives. It has paved the way for many more cell and gene therapy innovations and has given hope to families around the world."
