First gene therapy for a genetic disease to be approved by the U.S. Food and Drug Administration
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.
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.
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.
Former Attending Physician, Division of Hematology
Attending Physician, Division of Pediatric Ophthalmology
Director of the Ophthalmic Genetics and Retinal Degenerations Clinics
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