NEI-Funded Researcher Educates Congress About Gene Strongly Associated with Age-related Macular Degeneration (AMD)

September 22, 2005
CONTACT: James F. Jorkasky
Executive Director
[email protected]


AEVR Briefing Held During “AMD Awareness Week”

Dr. Hageman speaks about the CFH gene/AMD association

(Washington, DC) On September 21, Gregory Hageman, Ph.D., Professor of Ophthalmology and Visual Sciences at the University of Iowa Carver College of Medicine, spoke at an Alliance for Eye and Vision Research (AEVR) Capitol Hill briefing on the recent discovery by four independent research teams funded by the National Eye Institute (NEI) of a gene that is strongly associated with a person’s risk of developing age-related macular degeneration (AMD), the leading cause of vision loss. The gene, Complement Factor H (CFH), is associated with the body’s inflammatory response.

A standing room-only audience filled a Senate hearing room

“Variants in the CFH gene account for 30-50 percent of the overall risk for developing AMD,” said Hageman, a lead investigator of one of the research teams, who added that, “individuals have a two- to four-fold increased risk of developing the disease if they inherit the risk CFH gene variant from one parent, and a five- to seven-fold risk if they inherit the risk CFH variant from both parents.” Hageman noted, however, that protective forms of the CFH gene have been identified, and that this could pave the way for strategies to treat and prevent AMD. “With continued NEI funding, researchers can now develop diagnostic platforms for early detection, and therapeutic strategies such as gene therapy can be evaluated,” said Hageman, who examined more than 3,200 pairs of human donor eyes over the past 15 years to make the CFH/AMD association.

Dr. Hageman met with Members of the Iowa Congressional delegation, including Cong. Jim Leach (D-IA)

Hageman concluded by emphasizing that National Institutes of Health (NIH) Director Dr. Elias Zerhouni’s characterization of the discovery as one of NIH’s most important breakthroughs of the year is not to be taken lightly. “Variants of the CFH gene might also be involved with other inflammation-associated diseases such as Alzheimer’s and various kidney diseases, so understanding this gene may elucidate the immune system’s relationship to a variety of debilitating diseases. That is why continued funding of medical research at the NIH is so important, as we are now benefiting from an acceleration of discovery from past NIH research investments.” The NEI-funded CFH/AMD association represents collaborative research with the National Cancer Institute (NCI). Previous collaborations between NEI and the NCI, as well as the National Heart, Lung and Blood Institute (NHLBI), have led to the development of the first generation of ophthalmic drugs to inhibit abnormal blood vessel growth in “wet” AMD.

In introducing Dr. Hageman, ARVO Executive Director Joanne Angle reminded attendees that this “breakthrough” was 15 years in the making, and Congress must understand that basic research should

be funded over the long-term. AEVR Executive Director James Jorkasky added that the CFH/AMD association represents a tangible return on investment in the NEI, which “is working on all circuits, collaboratively with other Institutes and in public/private partnerships, which is the very intent of the draft NIH reauthorization legislation pending in the House.”

The Senate Special Committee on Aging minority staff distributed a “Dear Colleague” letter supporting the briefing, which included 60 Congressional staff attendees. NAEVR also issued its inaugural electronic “E-Zine” to Members of Congress and their staffs, which summarized recent NEI-funded research and promoted the event.

AEVR’s briefing was one of many events held worldwide during “AMD Awareness Week.” The previous day, the AMD Alliance, the Macular Degeneration Partnership, Prevent Blindness America and the Seniors Coalition held a briefing to educate Congress about the significant impact of AMD on the productivity, independence and quality of life of seniors. At the event, the AMD Alliance released its 2005 Global Report Awareness of AMD and Associated Risk Factors.

AMD is the leading cause of vision loss in older Americans, w ith almost 10 million individuals age 40+ currently experiencing intermediate-to-advanced stage of the disease, with about 50-80 million experiencing it worldwide. AMD affects a part of the eye called the “macula.” In “dry” AMD, abnormal deposits of proteins called drusen form in the macula, and in “wet” AMD, new blood vessels grow into the same region, damaging this sensitive tissue. Since the macula is essential to central vision, AMD severely affects a person’s ability to read and drive.

The Alliance for Eye and Vision Research (AEVR) is a non-profit organization dedicated to educating Congress and the public about the importance of federal funding for eye and vision research. AEVR unites the community of support for eye and vision research, including the ophthalmic and optometric professionals, consumer advocates and industry to speak with a unified voice about the economic and societal value of research. Visit AEVR’s Web site at

The 2005 AMD Global Report is available at