Jean Bennett, M.D., Ph.D.

Eye Health: Congenital Retinal Disease

Dr. Jean Bennett discusses the startling results of her work with five children and seven adults, from Belgium, Italy and the United states, with a type of Leber’s congenital amaurosis, rare but serious congenital retinal diseases.

The researchers injected into the eyes of the patients a virus with the normal version of the gene RPE65 inserted into its genome. When the virus invaded the light-sensing cells in the eye and inserted its own DNA into the cells’ DNA, the crucial human gene was included.

Dr. Bennett, an ophthalmology professor at University of Pennsylvania who was a leader of the study, said participants could “read signs or see numbers on their cellphones, stripes on their clothes, patterns on furniture, wood on a violin or marble on a table.” Some read several more lines on eye charts.

Starting at about two weeks, “all 12 had significant improvement,” said Stephen Rose, chief research officer at the Foundation Fighting Blindness, which helped finance the study. That meant the inserted gene was functioning. “You’re not returning 20-20 vision, let’s be real,” Dr. Rose said, “but you’re returning a tremendous amount of vision.”

Jean Bennett, M.D., Ph.D., tenured professor of Ophthalmology and Cell and Developmental Biology, and vice chairman for research in Ophthalmology at the University of Pennsylvania (Penn) School of Medicine, is a pioneer in retinal gene therapy and internationally recognized for her work in this field. She has developed gene transfer approaches to test treatment strategies for retinal degenerative and ocular neovascular diseases, to elucidate retinal differentiation pathways and to identify pathogenetic mechanisms that lead to blindness. Dr. Bennett is the principal investigator of the Foundation Fighting Blindness-funded The Children’s Hospital of Philadelphia (CHOP)-Penn Pediatric Center for Retinal Degenerations and the Scientific Advisor of a clinical trial that evaluates the safety and efficacy of gene augmentation for a Leber Congenital Amaurosis. This study was initiated in the fall of 2007 at The Children’s Hospital of Philadelphia.

Christopher Springmann

11 / 13 / 2009