For Immediate Release

5/6/2009

Bascom Palmer Eye Institute Researcher Receives NEI Grant for Gene Therapy Trial

May 6, 2009 – John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, was recently awarded a five-year $4.7 million grant from the National Eye Institute (NEI) for a gene therapy trial involving optic neuropathy.  “With this new grant, Dr. Guy further advances his role as a leader in exploring gene therapy as a potential treatment for diseases of the optic nerve,” said Eduardo C. Alfonso, M.D., interim chairman of Bascom Palmer Eye Institute, which serves as the Department of Ophthalmology of the Miller School of Medicine.

Dr. Guy’s leading-edge research focuses on Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that affects the eye’s retinal ganglion cells (RGCs), leading to a rapid loss of vision. Mutations in the mitochondria – the so-called “power plants” of individual cells – are responsible for the disorder. Currently, there is no treatment for LHON, which primarily affects young adult males.  Dr. Guy’s grant, “Leber Hereditary Optic Neuropathy: Gene Therapy Trial,” will fund a portion of the cost of developing new techniques to introduce healthy genes into the mitochondria.  “A wide range of other disorders, including cancer and Parkinson’s disease, are caused by mutations in the mitochondria,” said Dr. Guy. “If this approach works with LHON, it will demonstrate the wide potential applications for genetic therapy, while helping to address a significant cause of blindness.”

Dr. Guy has successfully used protein carriers to introduce healthy genes into the mitochondria using experimental models. After demonstrating the safety of this approach, he is now examining the effectiveness of this technique – whether replacing the mutated genes will be able to prevent the deterioration of the retinal cells that form the optic nerve.  “Other research studies have shown that LHON patients who have lost their vision still have some sensitivity to light,” he said. “That provides an indication that if you could restore the functioning of those cells through gene therapy these patients could see again.”  In conjunction with this research, Dr. Guy is exploring why only about 50 percent of patients with the genetic mutation develop LHON, while others do not. He has enrolled about 15 patients and family members for the first trail in the study.  While the recent NEI grant funds testing and regularity approval by the FDA, funding is still needed for clinical applications.

Dr. Guy holds three patents relating to gene therapy, as well has two other NEI grants, “Modification of Adeno Associated Virus to deliver DNA directly to Mitochondria” and “Experimental Optic Neuritis: Gene Therapy.” He has published more than 100 articles. Dr. Guy is available for neuro-ophthalmology consultation at Bascom Palmer Eye Institute at Miami and Palm Beach Gardens.