Gene Test for Macular Degeneration Created (10/20/2006)
Scientists at the John A. Moran Eye Center with the University of Utah have created a genetic test
to determine whether a person is at risk of developing Age Related Macular Degeneration (AMD).
The test works by detecting a gene called HTRA1 that is responsible for a 700% increase in the chances that a person
will develop AMD than an average person. Several previous studies identified that AMD seems to be controlled by
a gene on chromosome 10q26, but until this study the precise gene had not been identified.
AMD is a degenerative disorder that causes a portion of the retina called the macula to degenerate. The macula
is responsible for clear, central vision. The disease often gets continually worse until a patient is considered
legally blind.
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 tested the blood of 581 people
with AMD and 309 without, to find the gene responsible. All of the test subjects lived in Utah.
Utah has been a hot spot for genetic research because of the Mormon Church. The Mormon Church keeps a large
genealogical database of all of its members (living and deceased). Its considered one of the largest collections of
ancestral information in the world.
Several genetic defects have been discovered due to the information in the churches archives, including a gene
that is responsible for a major form of inherited breast cancer.
Note: This story has been adapted from a news release issued by the University of Utah Health Sciences Center
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