AEVR Congressional Briefing Highlights AMD Awareness Week 2008
Scientist Reveals Advances in Translation of Genetic Discoveries
On September 16, AEVR—and partners AMD Alliance International, Association for Research in Vision and Ophthalmology (ARVO), Lighthouse International, Alliance for Aging Research, and Ad Hoc Group for Medical Research—sponsored a Congressional briefing in recognition of International AMD Awareness Week 2008. Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in Americans over the age of 65.
Gregory Hageman, Ph.D.
Researcher Gregory Hageman, Ph.D. (University of Iowa, UI) described dramatic advances in AMD research that have occurred since 2005, when his and three other research teams first identified a gene variant strongly associated with increased risk for developing AMD. This research, funded by the National Eye Institute (NEI) and the National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH), was initially described by Dr. Hageman at a September 2005 AEVR Congressional Briefing. In this update, he announced new findings that could change the way AMD is treated—and potentially cured.
The identified gene Complement Factor H (CFH) and its protein product are normally engaged in the control of a portion of the bodyís immune system. Variants in the gene result in poor regulation of this system and can lead to the development of AMD. In the United States, approximately 15 million people have AMD and, worldwide, it affects vision and the concomitant productivity, independence, and quality of life of more than 30 million people. The economic and societal impact is significant, accounting for a major portion of the $68 billion spent annually in the U.S. on eye disease and visual impairment.
Dr. Hageman and Cong. Bruce Braley (D-IA), who attended the briefing
In addition to directing the Cell Biology and Functional Genomics Laboratory at UI, Dr. Hageman is also the Scientific Founder and Chief Scientific Officer of a newly formed company Optherion, Inc., which is working on developing AMD treatments based on the latest gene discoveries. With funding from the NEI and UI, and additional support from Optherion, he and colleagues around the world are moving toward commercializing a therapy for replacing CFH in patients with AMD and possibly in genetically-susceptible individuals.
His work over the past 25 years has focused on understanding the cellular pathways leading to AMD, which could lead to discoveries of potential therapies, including the manufacture and use of the protective version of the CFH protein in an augmentation strategy similar to that of treating diabetes with insulin. This therapy is under development and expected to enter Phase I clinical safety trials in summer 2009. Dr. Hageman describes the recent scientific and translational progress as "nothing short of spectacular."
AEVR Executive Director James Jorkasky joins Dr. Hageman in discussing the dramatic implications of his AMD research
He also announced preliminary, unpublished findings in patients with liver transplants that support the direction and scope of his research. Normal levels of healthy CFH protein protect against AMD. Since most of the CFH is made in the liver, liver transplant recipients offer an opportunity to study what occurs when an individual receives a different form of CFH following transplantation. Researchers hope that these studies will reinforce the concept of providing AMD patients with doses of the protective protein or, in the future, with gene therapy approaches that would allow the liver to produce the protein on its own. Dr. Hageman also noted newly published observations of possible relationships between CFH and obesity, coronary artery disease, myocardial infarction, and stroke, among other conditions-the findings of which facilitate new opportunities for trans-NIH research
AEVR Executive Director James Jorkasky concluded the briefing by stating that, "Dr. Hagemanís work exemplifies the NIH priority-as expressed by NIH Director Elias Zerhouni, M.D.—of the translation of genetic discoveries into preventive, diagnostic, and treatment strategies. These discoveries are transforming the research and healthcare practice paradigm into one that is predictive, preemptive, personalized, and participatory."
Left to right: Tara Cortes, Ph.D., R.N., Carl Tuvin (Tuvin Associates), Cynthia Stuen, Ph.D., and David Moore (Ad Hoc Group for Medical Research, a briefing co-sponsor). Drs. Cortes and Stuen represented co-sponsor Lighthouse International.
For more information about AMD and other aging eye diseases, refer to The Silver Book: Vision Loss, published by the Alliance for Aging Research in partnership with the National Alliance for Eye and Vision Research (NAEVR), at www.silverbook.org/visionloss.
Dr. Hageman met Cong. Dave Loebsack (D-IA), in whose district the University of Iowa is located, during a break in a hearing by the House Armed Services Committee
Erik Fatemi, who works for Senator Tom Harkin (D-IA), Chair of the Senate LHHS Appropriations Subcommittee, hears about Dr. Hagemanís translational research