Kellogg’s Retinal Dystrophy Clinic — a Destination for Patients with Inherited Eye Disease Coming next, a gene therapy center to move treatment to patients For years, John R. Heckenlively, M.D., a world expert in inherited eye disease, has collected genetic profiles of his patients so that he can notify them when treatments for these blinding diseases become available. Now, as breakthroughs in gene therapy begin to emerge, Dr. Heckenlively and his research colleagues believe the time is right to form a molecular treatment center at the U-M Kellogg Eye Center. The Center for Gene and Molecular Therapy will build on the success of Kellogg’s Retinal Dystrophy Clinic—which today is a destination for patients with rare genetic eye diseases—and the Eye Center’s years of experience in the genetics of eye disease. Such a center could not exist without the decades of work conducted by Dr. Heckenlively and his predecessors in identifying gene mutations in patients with retinitis pigmentosa (RP), a group of diseases that cause slow but progressive vision loss. Dr. Heckenlively is one of a handful of physicians skilled at making a precise diagnosis for a disease with many variations, each appearing nearly identical to the other. “Twenty-five years ago, clinicians would tell you there are three types of retinitis pigmentosa,” says Dr. Heckenlively, the Paul R. Lichter Professor of Ophthalmic Genetics. “Now we can identify gene mutations in well over 100 forms of the disease—150 if you include syndromes—and we need to find a cure for every one of them.” In Kellogg’s Retinal Dystrophy Clinic, patients undergo eye examinations, extensive testing, and genetic counseling—all essential pieces leading to an eventual diagnosis of the disease. “Data generated in the clinic— genetic history and electrophysiological testing—are integral to both current and future treatment,” says K. Thiran Jayasundera, M.D., who completed a fellowship in retinal dystrophies with Dr. Heckenlively and another in vitreoretinal surgery at McGill University before joining the Eye Center.
Dr. Heckenlively illustrates the features of retinitis pigmentosa as seen in an image of the back surface of the eye. “Our patients know that gene therapy is evolving,” says Dr. Jayasundera. “For now, they appreciate having comprehensive care; the opportunity to participate in research studies; and, ultimately, knowing what genetic mutation they have.”
Building a center for gene and molecular therapy— gene by gene In the most basic terms, gene replacement therapy involves identifying a defective gene and replacing it with a “normal” copy of the gene. This therapy won’t work for every retinal dystrophy, and it’s not likely to be effective for people who have experienced a degenerative disease over a long period of time. Thus, some of the early promise lies with diseases that affect children and young adults.
Dedicated to Research
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