November 20, 2002

UM Kellogg Eye Center wins grant to accelerate search for genes associated with age-related macular degeneration

Ann Arbor—A new grant will allow researchers at the University of Michigan Kellogg Eye Center to develop a sophisticated data management and analysis system that could expedite the discovery of genes associated with age-related macular degeneration (AMD). The Elmer and Sylvia Sramek Charitable Foundation has awarded Kellogg researchers a four-year grant to design and create six interactive and integrated databases that will help them extract meaningful data from two major lines of research currently underway at Kellogg: genetic studies of specific families affected by AMD, and genomic studies that seek to identify changes in the expression of eye genes during aging and as the disease progresses.

Paul R. Lichter, M.D., Director of the Kellogg Eye Center, observes that advances in genetic research in recent years have yielded vast amounts of data, so much, in fact, that a new need has emerged—that of managing and making sense of the resulting data. “We are pleased that the Sramek Foundation has recognized this need to create the necessary infrastructure, which will give a real boost to our work and the emerging field of bioinformatics and microarray data management, says Dr. Lichter. These tools will accelerate the way toward our ultimate goal—finding treatments and cures for a complex and prevalent eye disease.

Anand Swaroop, Ph.D., Professor of Ophthalmology and Visual Sciences and of Human Genetics, will direct the study. A key component involves scanning RNA samples for the estimated 20,000 eye-related genes with the goal of identifying those that can be used as candidates for susceptibility to AMD. Because Kellogg, under Dr. Swaroop’s leadership, was among the first to develop a facility for rapid-scanning microarray technology, the task will be much faster than it would have been even a few years ago. Kellogg researchers have already established a library of genes expressed in the retina and retinal pigment epithelium that will ultimately yield rich data for all vision researchers. In this phase of the study, researchers will look for changes in gene expression that occur during aging, and as the retinal disease progresses. At the same time, Dr. Swaroop and his colleagues are collecting data on families affected by AMD. Some 1800 individuals, including 1050 families with AMD, have volunteered for this ongoing Kellogg study, many expressing the desire to help future generations. Kellogg researchers collect data for each individual, ranging from demographics and age, to risk factors and genetic data from DNA samples. This study could also help to discern common genetic patterns and identify gene candidates. According to Dr. Swaroop, the power of this research will come when it is integrated with the microarray studies and related biological research.

Each year AMD affects 1.65 million individuals over the age of 60, and it is the leading cause of permanent vision loss for people in that age group. It is a progressive disease that affects central vision required to read, drive, and recognize faces. The research is critical and timely because the aging segment of our population has increased dramatically and because current treatments benefit only a small number of people who have wet macular degeneration, the less common form of AMD.

Dr. Swaroop explains that the genetic underpinnings of AMD are quite complex—that the disease is probably caused by the interaction of multiple genes and environmental risk factors. Family history and age are the major risk factors, says Dr. Swaroop, who recently published a study on the aging of the human retina. He also notes that researchers are unlikely to find a single gene, as in the case of cystic fibrosis, that is at the root of the disease. Says Dr. Swaroop, The interplay of genes and risk factors makes the collection and integration of divergent genetic and gene expression data sets even more crucial.

Dr. Swaroop has defined a broad set of goals for the Sramek study. “We believe that our research will uncover essential information about the molecular profile of the aging retina, broaden our understanding of cellular processes in both normal and diseased retinal tissue, and help define the mechanisms of AMD pathogenesis, he says. By the study’s end, we hope to have developed better tools for data management and analysis that would facilitate improved diagnosis, prevention, and, eventually, treatment of this devastating disease of the elderly. Dr. Anand Swaroop is the Director of Sensory Gene Microarray Node and Coordinator/Director of the Center for Retinal and Macular Degeneration at the Kellogg Eye Center.

The Elmer and Sylvia Sramek Charitable Foundation, based in Chicago, was established in 1995 to support a broad range of charitable and educational purposes. In recent years, the Foundation has identified two areas of specific importance to its namesakes: projects related to the prevention, treatment and cure of cancer, and to visual impairment in the elderly.

The U-M Kellogg Eye Center is a nationally recognized vision care and research center. As part of the University of Michigan Health System, Kellogg provides medical and surgical eye care, including laser eye surgery; professional and public education; and conducts advanced vision research. Kellogg also serves as a regional referral resource, providing specialty vision care that may not be available in other communities.