October 21, 2003

FFB-Sponsored Study Leads to Discovery of New AMD Gene

Posted in: Latest News, Research and Developments

(Press release from the Foundation Fighting Blindness)
October 21, 2003

An exciting gene discovery by an FFB-funded researcher adds to the growing proof that macular degeneration can be hereditary. This is the first gene mutation found that is directly tied to age-related macular degeneration (AMD). The discovery of this gene mutation bolsters hope for a therapy to prevent and potentially cure AMD.

Dennis W. Schultz, Ph.D., of Casey Eye Institute of Oregon Health & Science University, with his colleague Michael Klein, M.D., and a team of researchers, reports the finding in an article to be published this December in Human Molecular Genetics. (An abstract of the report is available online at the journal’s web site). The researchers describe a mutation of a gene called HEMICENTIN-1. The mutation was discovered in multiple generations of a large family with many members with AMD.

Gerald Chader, Ph.D., MD, hc, chief scientific officer of The Foundation, considers the discovery important and noteworthy. “I believe,” he states, “that it will lead to the detection of other AMD-causing genes and ultimately to treatments.”

Dr. Schultz’s research shows that a HEMICENTIN-1 mutation is only one contributor to AMD. Dr. Chader noted that although we are seeing a definite risk due to inheritance, we also know that environmental factors, such as cigarette smoking, diet and blood pressure can play a role.

To read the Human Molecular Genetics abstract of the article online, follow this link.

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