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August 14, 2002


Emory Researcher Receives Emory/Georgia Institute of Technology Grant Funding to Study Retinal Gene Defects

Jeffrey H. Boatright, PhD, assistant professor, Emory Eye Center, has been awarded an Emory/Georgia Institute of Technology Seed Grant for one year in the amount of $40,000. His collaborator at Georgia Tech is Roger Wartell, PhD, chairman of the School of Biology.

The purpose of the grant is to develop a novel strategy for repairing gene defects that underlie retinal degenerations in mouse models of retinitis pigmentosa (RP).

"Dr. Wartell and I are exploring a gene therapy strategy in which the naturally-occurring DNA repair capabilities of an affected individual are recruited to convert a mutation in the individual's genome to wild type," says Boatright. "We have chosen an animal model of a human form of a genetic disease that can cause blindness (retinitis pigmentosa). We hope that an approach optimized in the mouse model can be transferred to the human condition in order to prevent or ameliorate disease," he concludes.

"The only way we will be able to achieve progress in genetic modification is through collaboration with faculty in institutions that bring to the table disparate specialties—such as that between Emory's medical sector and Georgia Tech's engineering expertise," says Thomas M. Aaberg, Sr., director of the Emory Eye Center and chairman of the Emory School of Medicine Department of Ophthalmology. "This very exciting work between two gifted investigators will undoubtedly foster innovative research."


Most current forms of gene therapy either add synthetic copies of genes back to the affected individual (to make up for the gene product [protein or messenger RNA] insufficiency caused by the gene mutation) or the therapies are designed to destroy gene product (to prevent diseases caused by a deadly protein that results from the gene mutation). The goal of Boatright's and Wartell's strategy is to actually repair the mutation in the endogenous gene DNA sequence so that the individual makes the correct gene product, in the correct tissue, at the correct time, and in the correct amount.

In this strategy, a short piece of chemically-modified, single-stranded therapeutic DNA is introduced into the affected individual or into affected cells. The therapeutic DNA targets the region of the genome that contains the mutation. The binding of the therapeutic DNA to the targeted gene recruits endogenous repair mechanisms that change the mutation to the correct, wild type.

Their pilot studies indicate that the mouse and human retina contain DNA repair enzymes shown to be requisite for this strategy. Additionally, in vitro tests show that therapeutic DNA constructs can indeed recruit repair activity from protein extracts of mouse and human retina. Finally, tests with human and mouse cells and with mice in vivo show that endogenous gene repair occurs in the eye following treatment with several different therapeutic DNA fragments.

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