Jean Bennett, MD, PhD, Albert Maguire, MD, and Katherine High, MD, were awarded the Breakthrough Prize in Life Sciences for developing the first FDA-approved gene therapy for an inherited condition that improves sight in people with Leber Congenital Amaurosis (LCA), according to an April 19 announcement. The award recognizes their work at the University of Pennsylvania’s Perelman School of Medicine and Children’s Hospital of Philadelphia (CHOP).
The recognition is significant because it highlights advances in treating genetic forms of blindness and demonstrates how decades-long scientific persistence can lead to transformative therapies. Their research has led to more than 140 gene therapy trials for retinal conditions like macular degeneration and diabetic retinopathy.
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 team began their work by testing a gene therapy on dogs with a condition similar to LCA. They developed a method using a virus to deliver healthy DNA into cells affected by faulty genes. Early experiments showed restored vision in treated dogs. Katherine High also contributed by advancing clinical trials for hemophilia before collaborating on this project at CHOP.
Clinical trials started at CHOP in 2007 when Maguire administered the experimental treatment to patients with LCA. Of those treated during initial trials, 72 percent reported maximum improvement under low-light conditions; many gained better peripheral or central vision as well.
Madeline Bell, CEO of CHOP, said: “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.”
The FDA approved Luxturna—the commercial version manufactured by Spark Therapeutics—in 2017 as the first genetic therapy approved for an inherited disease. Today’s prize marks nearly four decades since Bennett’s and Maguire’s initial experiments inspired ongoing innovation across modern gene therapy.
