Biotech Values

[Biowatch]

http://www.blindness.org/

Has info on AMD and other eye diseases, as well as an announcement of discovery of a gene linked to AMD.

http://www.blindness.org/research.asp?id=172&type=2

New AMD Gene Discovery

"An exciting gene discovery by an FFB–funded researcher adds to the growing proof that macular degeneration can be hereditary."

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.

AMD is a progressive disease of the macula, the portion of the retina where central vision is the sharpest. Approximately one in four Americans 65 and older has AMD or is at significant risk for AMD. It is estimated that 42 million Americans will be living with the disease by the year 2030.

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." Funding by the Foundation Fighting Blindness led to earlier discoveries of genes responsible for macular degeneration, including the ABCR gene for Stargardt disease, a juvenile form of macular degeneration. Additionally, FFB-funded researcher Johanna Seddon, M.D., found a greater likelihood of AMD among relatives of individuals with the ABCR gene in her studies of family members and of twins.

Gene therapy holds tremendous potential for treating retinal degenerative diseases. This was dramatically proven a couple of years ago in the dog "Lancelot." He and his littermates, born blind with LCA (a form of retinitis pigmentosa, RP), had their functional vision restored through gene therapy.

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.

The Foundation Fighting Blindness will continue funding research for all retinal degenerative diseases. Your support in funding these initiatives is critical to speed the pace of research and make promising treatments a reality.

To read the Human Molecular Genetics abstract of the article online, go to http://hmg.oupjournals.org/cgi/content/abstract/ddg348v1

The work described in this article was made possible through generous gifts from people like you. Please click here to make a donation to The Foundation.

Registered users have greater access to FFB publications. This includes access to more publications and the option to receive notifications through email.

©2003 Foundation Fighting Blindness. All rights reserved.