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New gene linked to macular degeneration risk

Salt Lake City, Utah. Oct. 13, 2006.

Researchers at the John A. Moran Eye Center at the University of Utah have identified a gene called HTRA1 that contributes to a major risk of Age Related Macular Degeneration (AMD), the most common cause of irreversible vision loss in the developed world. The discovery of this gene allows anyone to take a simple blood test to find out if they are up to 700% more likely to develop AMD than the average person. This is particularly important for individuals who have a family history of blinding eye conditions.

This test, which is strongly predictive of AMD, will allow people with high risk for AMD to adapt diet and lifestyle changes to lower their risk or delay the onset of the disease. Perhaps more significantly, because this research has identified an entire new pathway and drug target for AMD, this discovery will very likely lead to new and effective treatments for the disease.

Lead by Kang Zhang M.D., Ph.D., Director of the Division of Ophthalmic Genetics at the Moran Eye Center and Associate Professor of Ophthalmology and Visual Sciences at the University of Utah, the study will be published online October 19 in the journal Science. Dr. Zhang explains the significance of the discovery: "Several previous studies have implicated a major gene at chromosome 10q26 that affects the risk of AMD, but until this study the precise gene has not been identified."

AMD is a degenerative disorder affecting a portion of the retina called the macula. The macula is responsible for clear, central vision. Individuals with AMD have difficulty with activities like reading, watching television, and seeing faces of people directly across the table. The disease often leads to legal blindness in patients older than 60 years of age.

How did the researchers discover that this gene is involved in AMD? In this study the researchers genotyped 581 people with AMD and 309 without AMD in a Utah populatio
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Contact: Steve Brown
steven.brown@hsc.utah.edu
801-587-7693
University of Utah Health Sciences Center
19-Oct-2006


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