Sharing the Expertise A computer model could help more patients know which genes — and emerging treatments— a r e linked to their retinal disease Specialists in inherited retinal diseases—rare eye conditions that often lead to blindness or near blindness— are few and far between. Yet these physicians offer their patients a great deal of hope by identifying complex conditions and then confirming the diagnosis with genetic testing. To share the expertise of this small group of retina experts, Thiran Jayasundera, M.D., a specialist in retinal dystrophy at the Kellogg Eye Center, is collaborating with faculty from the U-M College of Engineering. Together, they plan to create a computer model, RetDegenDx, to help physicians arrive at a diagnosis for their patients—the first step in finding treatments for uncommon retinal diseases.
The Kellogg Eye Center is a natural starting point for such a system. John R. Heckenlively, M.D., the Paul R. Lichter Professor of Ophthalmic Genetics, has kept genetic profiles of his patients for years, creating a rich collection of clinical observations linked with genetic tests confirming the causative gene or genes. “It’s still very early in the development process,” observes Dr. Jayasundera, who completed a fellowship with Dr. Heckenlively before joining Kellogg’s faculty. “But we know that data like this could help direct at least a small group of patients to the correct therapeutic trial.” The engineering team will develop image recognition software to identify indicators of disease that a specialist like Dr. Jayasundera would readily see in
Kellogg’s retinal dystrophy team includes physicians, genetic counselors, and research scientists. Back row: Sarwar Zahid (medical student), Jillian Huang, M.S., David Zacks, M.D., Ph.D., Kari Branham, M.S., C.G.C., Naheed Khan, Ph.D. Front row: Debra Thompson, Ph.D., John Heckenlively, M.D., Thiran Jayasundera, M.D.
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university of michigan kellogg eye center