Our Breakthrough

Creating a New Gene to Treat Blindness

First gene therapy for a genetic disease to be approved by the U.S. Food and Drug Administration

Eye Illustration

Our Challenge

Treating a Devastating Retinal Disease

Leber congenital amaurosis, a degenerative disease, begins stealing sight in early childhood due to a mutation in the RPE65 gene. Gene therapy could represent a potential cure, but many institutions and researchers are reluctant to enter the field.

Our Solution

An Ingenious Injection

Injections of genes produce proteins to make light receptors work in patients’ retinas. CHOP hematologist Katherine High, MD, and colleagues find a safe way to deliver the gene, making the therapy feasible.

Dr. Maguire conducting exam
Hannah smiling

Our Impact

Patients’ Sight Is Restored

Patients who were considered legally blind, and would have become totally blind by their 20s or 30s, are living normal lives after receiving this therapy.

Meet Hannah

Our Team

Gene Therapy Pioneers

Our team includes experts who have vast experience developing and administering gene therapies.

Dr. High bio photo

Katherine High, MD

Former Attending Physician, Division of Hematology

Dr. Maguire bio photo

Albert Maguire, MD

Attending Physician, Division of Pediatric Ophthalmology

Dr. Leroy bio photo

Bart P. Leroy, MD, PhD

Director of the Ophthalmic Genetics and Retinal Degenerations Clinics

Moving Ahead

More Gene Therapies on the Horizon

At Spark Therapeutics, a West Philadelphia company that was spun out of CHOP in 2013, researchers are developing gene therapies for hemophilia, lysosomal storage disorders and neurodegenerative diseases.

Luxturna was the first gene therapy for a genetic disease to receive FDA approval.

Help Us Find Solutions

We find real-world, scalable solutions to seemingly intractable problems. Led by the greatest minds in medicine, and with support from our generous donors, our world-renowned teams are taking on the toughest diseases the world has ever seen – and winning.

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