Penn Medicine and Children’s Hospital of Philadelphia researchers Jean Bennett, Albert Maguire, and Katherine High have been awarded the Breakthrough Prize in Life Sciences for developing the first FDA-approved gene therapy for an inherited disease, a treatment that restores vision in patients with certain forms of blindness.
The award recognizes decades of pioneering work that led to the development of a gene therapy for Leber congenital amaurosis, a rare inherited condition that causes severe vision loss from birth and often leads to complete blindness. The therapy, later commercialized as Luxturna, uses a viral vector to deliver a functional gene to retinal cells, restoring their ability to produce essential proteins for vision.
The breakthrough has helped establish the foundation for modern gene therapy, paving the way for more than 140 clinical trials targeting retinal diseases such as macular degeneration and diabetic retinopathy, with dozens more currently underway. These conditions collectively affect tens of millions of people in the United States.
The research originated from early experiments involving animal models, including dogs with similar genetic blindness, before advancing into human clinical trials. In those trials, a majority of participants experienced significant improvements in vision, including the ability to navigate in low-light environments and perform everyday tasks previously impossible.
The therapy received approval from the U.S. Food and Drug Administration in 2017, marking a historic milestone as the first gene therapy approved for an inherited condition. Since then, hundreds of patients worldwide have received the treatment.
The Breakthrough Prize, often referred to as the “Oscars of Science,” includes a $3 million award and honors major achievements in life sciences, physics, and mathematics. The recognition places the Penn-affiliated researchers among a select group of scientists whose work has significantly advanced medical science and patient care.
The achievement underscores the long-term collaboration between Penn Medicine and Children’s Hospital of Philadelphia, as well as sustained investment in gene and cell therapy research that continues to drive innovation across the field.
KEY QUOTES
“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.”
Jonathan Epstein, Dean, Perelman School Of Medicine, University Of Pennsylvania
“Science is rarely a straight path, and those who make the most profound discoveries are resilient and persistent, overcoming obstacles along the way. 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.”
J. Larry Jameson, President, University Of Pennsylvania
“Developing cell and gene therapies has long been a top priority for our organization. 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.”
Madeline Bell, Chief Executive Officer, Children’s Hospital Of Philadelphia
