AEVRs World Glaucoma Week 2014 Briefing Focuses on Genetic Basis of Glaucoma
 Janey Wiggs, M.D., Ph.D (Harvard Medical School/Mass Eye and Eye Infirmary), who in 2013 received an NEI Audacious Goals in Vision Research and Blindness Rehabilitation Challenge award for her idea to create a network of biobanks that collect phenotype (physical characteristic) and genotype (genetic) data of people with certain eye diseases, including glaucoma |
On February 26, AEVRs Decade of Vision 2010-2020 Initiative held its World Glaucoma Week 2014 Congressional Briefing two weeks earlier than other worldwide events held during March 9-15 since the American Glaucoma Society (AGS) was holding its Annual Meeting in Washington, D.C. Held in conjunction with the AGS Advocacy Day (see box at end of story) and co-hosted by all major glaucoma societies and research organizations (see box below), the briefing was the first time that AEVR featured National Eye Institute (NEI)-funded researchers engaged in studying the genetic basis of glaucoma-which will lead to new insights into the molecular pathogenesis, effective screening and prevention strategies, and more rational treatment approaches. Glaucoma is a group of complex neurological diseases that damages the optic nerve, causing loss of peripheral vision and ultimately blindness. More than 2.7 million Americans have glaucoma, which accounts for 9-12 percent of all cases of blindness in the United States, and its prevalence is growing with the aging of the population. It is the third leading cause of blindness in the U.S. and the leading cause among Hispanics.
 Louis Pasquale, M.D. (Harvard Medical School/Mass Eye and Ear Infirmary), whose research focus is the interaction of genes and the environment in glaucoma and clinical practice focuses on normal tension glaucoma |
Entitled Determining the Genetic Basis of Glaucoma to Develop Novel Treatments, the briefing featured two researchers from Harvard Medical Schools Massachusetts Eye and Ear Infirmary-Janey Wiggs, M.D., Ph.D. , the Associate Chief of Ophthalmology Clinical Research and Associate Director of the Ocular Genomics Institute and Louis Pasquale, M.D., Director of Glaucoma Service and Director of Telemedicine. Both participate in the NEI Glaucoma Human Genetics Collaboration (NEIGHBOR) Consortium and augmented Glaucoma Gene Environment Initiative (GLAUGEN), a joint project with the National Eye Institute and National Human Genome Research Institute (NHGRI) within the National Institutes of Health (NIH). These collaborative efforts are under the umbrella of a larger NEIGHBOR Heritable Overall Operational Database (NEIGHBORHOOD) that involves clinicians and geneticists at multiple institutions throughout the U.S. The consortiums goal is to identify genetic variants associated with Primary Open Angle Glaucoma (POAG), the most common form of the disease. NEIGHBOR is unique because it is the largest Genome-Wide Association Study (GWAS) for POAG to-date and has identified the first genetic risk factors for normal pressure glaucoma.
Dr. Wiggs explained that the overall goal of the research is to identify glaucoma risk factors, which can be both genetic and environmental. The discovery of risk factors can make it possible to develop screening and diagnostic tests that can identify those at risk before irreversible damage to the optic nerve. Characterizing the genes and environmental exposures will help define the molecular abnormalities responsible for the disease, which is the first step toward developing novel therapies targeted to the disease-causing events. She spoke at length about NEIGHBORs focus on adult-onset POAG, since it is strongly age-related, and has complex inheritance, meaning that multiple genes, each with moderate effects, contribute to the disease susceptibility. NEIGHBOR created the NEIGHBORHOOD database to compare the distribution of genetic markers distributed through the human genome in a very large number of glaucoma cases and controls. She described the gene variants discovered to-date for glaucoma, noting that there is still much to discover, especially with regard to rare gene variants and their impact on disease risk.
Dr. Pasquale described the use of The Nurses Health Study—which was begun at Harvard in 1976, initially included 120,000 participants, and tracks incidence of 40 different diseases, including glaucoma—to research a potential link between estrogen level and POAG risk pre- and post-menopause. He cited a number of studies that have shown a relationship between attributes of female reproductive health and increased POAG risk. He also provided evidence that the relation between declining estrogen levels and POAG has a genetic basis. Specifically he discussed how common genetic variants involved in estrogen metabolism and nitric oxide signaling are related to POAG. He concluded by noting that both environmental and genetic factors relating to estrogen levels are associated with POAG, and that gender biology research has identified several potential targets for POAG, including estrogen itself and components of the nitric oxide signaling pathway.
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The first World Glaucoma Day was held on March 6, 2008, and the United States House of Representatives passed H.R. 981, which recognized the event and supported the NEIs efforts to research the causes of and treatments for glaucoma. Since 2010, the day has expanded into a week of events held worldwide, with all major glaucoma professional societies and research organizations co-sponsoring AEVRs 2014 event, including:
American Glaucoma Society (AGS) Association for Research in Vision and Ophthalmology (ARVO) Glaucoma Research Foundation (GRF) Optometric Glaucoma Society (OGS) The Glaucoma Foundation (TGF) Click here to read an NEI summary of its glaucoma research. |
 Prior to the briefing, Congressional Vision Caucus Co-Chair Cong. Gene Green (D-TX) dropped by between hearings to meet the speakers and thank them for their dedication to glaucoma research. Cong. Green is a member of the House Energy & Commerce Committee, with oversight jurisdiction of the NIH. |
 Kelley Kurtz from the office of Cong. Rob Woodall (R-GA) with Abdul Agermoune, a parent whose child was recently diagnosed with infantile-onset glaucoma and who spoke with Dr. Wiggs and Dr. Pasquale about the latest in such research |
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AGS Members Educate Hill about Glaucoma Research and Clinical Practice
AEVR coordinated its event with the AGS Advocacy Day, which was held just prior to the start of its Annual Meeting. A total of 52 AGS advocates from 23 states participated in 105 visits with Members of Congress, sharing their message about the impact of glaucoma, why it is vital to fund this research within the NEI, and the importance of the glaucoma sub-specialty clinical practice. NAEVR was pleased to assist AGS and to accompany its members on Hill office visits. Later that day, the AGS joined with the Food and Drug Administration (FDA) in convening a workshop to advance the science of minimally invasive glaucoma surgery devices. At the AGS Annual Meeting, Dr. Wiggs provided the Clinician-Scientist Lecture, delineating two different approaches to using genetics in glaucoma research depending on whether the disease occurs early or late.
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