Jean Bennett, MD, PhD, Albert Maguire, MD, and Katherine High, MD, were awarded the Breakthrough Prize in Life Sciences for developing the first United States Food and Drug Administration-approved gene therapy for an inherited condition that improves sight in people with Leber Congenital Amaurosis (LCA), according to an April 19 announcement. The team includes emeritus professors from the University of Pennsylvania’s Perelman School of Medicine and Children’s Hospital of Philadelphia (CHOP).
The award recognizes a major advance in treating inherited blindness. Their work has led to more than 140 gene therapy trials for retinal conditions such as macular degeneration and diabetic retinopathy. These diseases affect about 30 million people in the United States.
Jonathan Epstein, MD, dean of the Perelman School of Medicine at Penn, said: “Even 20 years ago, treating people with gene therapy was seen by some as an impossibility. 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 known as the “Oscars of Science” due to their high-profile ceremonies celebrating research across several fields. Each prize comes with a $3 million award. With this latest honor, nine researchers affiliated with Penn have now received a Breakthrough Prize.
J. Larry Jameson, MD, PhD, president of the University of Pennsylvania said: “Science is rarely a straight path…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.” Madeline Bell, CEO at CHOP added: “This breakthrough is the result of decades of investment and collaboration…It has paved the way for many more cell and gene therapy innovations and has given hope to families around the world.”
Bennett’s and Maguire’s research began after learning about blind dogs at Penn’s veterinary school who had LCA-like conditions caused by mutations on the RPE65 gene. They developed a viral-based therapy that restored vision in these animals before moving on to human trials through collaborations including High’s leadership at CHOP’s Raymond G. Perelman Center for Cellular and Molecular Therapeutics.
Clinical trials showed significant improvements: among 37 participants treated between 2007-2017 at CHOP using what became known commercially as Luxturna (manufactured by Spark Therapeutics), most reported maximum possible improvement under low-light conditions along with better peripheral or central vision.
Reflecting on their journey after nearly four decades leading up to FDA approval in 2017—and another related hemophilia treatment approved in 2024—Maguire said: “We always just did what we thought you were supposed to do if you were a doctor: Find treatments for diseases.” Bennett remarked: “For every success there are usually so many failures…But our team hit on something that has helped so many people…” High described regulatory challenges faced during development but noted their efforts helped build “the foundation of modern gene therapy.”
