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AEVR International AMD Awareness Week Congressional Briefing: Young Researcher Uses “Big Data” to Determine Genetic Basis of AMD

Featured speaker Goncalo Abecasis, D.Phil. (University of Michigan)
Featured speaker Goncalo Abecasis, D.Phil. (University of Michigan)
On September 19, the Alliance for Eye and Vision Research’s (AEVR) International Age-related Macular Degeneration (AMD) Awareness Week 2013 Congressional briefing focused on how National Eye Institute (NEI)-funded researchers are using “big data’ from Genome Wide Association Studies (GWAS) to determine the genetic basis of AMD. AEVR was joined by partners AMD Alliance International, Alliance for Aging Research, Association for Research in Vision and Ophthalmology (ARVO), European Vision Institute, and Lighthouse International in sponsoring this event—one of many held globally to recognize AMD’s impact in terms of decreased productivity, loss of independence, and reduced quality of life. Since AMD is the leading cause of blindness and low vision in the developed world due to the loss of central vision from damage to the macula, the central part of the light-sensitive retina in the back of the eye, investigators are conducting encouraging new research into its genetic basis, which could yield new diagnostics and treatments for the disease.

Featured speaker Goncalo Abecasis, D.Phil., who serves as the Felix E. Moore Collegiate Professor of Biostatistics at the University of Michigan School of Public Health, described his work, which is the identification and characterization of genes determining human variation and disease through the development of analytical methods and statistical tools that facilitate the mapping of complex traits. Such tools and methods have become increasingly important as the time and cost of DNA sequencing continues to decline, resulting in vast amounts of genomic data.

A young scientist, he received his first National Institutes of Health (NIH) grant at 27 years of age and has been funded by both the NEI and the National Human Genome Research Institute (NHGRI). In 2012, Thomson Reuters ScienceWatch named him one of the “Hottest Scientific Researchers,” reflecting the most-cited publications of the year. He was co-author on the 2012 hottest paper, published October 2010 in Nature, about preliminary results from the 1000 Genomes Project, which was completed in 2012 and sequenced 1,000 genomes of people from various ethnicities around the world to explore the effects of human genetic variation on health and susceptibility of disease.

Dr. Abecasis is also a leader in NEI’s AMD Gene Consortium, a network of international investigators representing 18 research groups. In March 2013, the consortium reported in the journal Nature Genetics the discovery of seven new regions of the human genome-called loci-that are associated with increased risk for AMD, as well as confirmation of 12 loci identified in previous studies. The consortium’s analysis included GWAS data from more than 17,100 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without AMD. The 19 loci found to be associated with AMD implicate a variety of biological functions, including regulation of the immune system (the Complement Pathway), maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism, and atherosclerosis.

Dr. Abecasis is spearheading efforts to further analyze the areas around the 19 loci to identify undiscovered rare genetic variants that may have a disproportionately large effect on AMD risk. Discovery of such genes could greatly advance understanding of AMD pathogenesis and lead to more effective diagnostics and treatments. “Once you know, for example, if I can ‘break’ this gene I will lower your risk of disease,” Dr. Abecasis said, “Then you might say, ‘Well, it may be a good idea for trying to prevent disease is to design a drug that also blocks the gene.’”

AEVR’s briefing featured an eye healthy luncheon, in which food items were identified for their nutritional content of zinc, antioxidants, omega-3 fatty acids, beta carotene, and lutein/zeaxanthin. These nutrients have been identified in the NEI’s Age-Related Eye Disease Study (AREDS) Phases 1 and 2 as critical to reducing the risk of developing AMD.

The luncheon was supported by an unrestricted grant from Regeneron, Inc.

Dr. Abecasis Visits Congressional Offices as part of National Advocacy Day
Under the auspices of the National Alliance for Eye and Vision Research (NAEVR) and the Association for Research in Vision and Ophthalmology (ARVO), which served as partners with 170 other biomedical research organizations in the “Rally for Medical Research Advocacy Day,” Dr. Abecasis joined with 250 other researchers and patients/survivors in visiting Congressional offices. In meeting with the Michigan delegation, he spoke about the sequester’s impact on his research. “The sequester has resulted in a slowdown in how fast we’ve been improving new technologies for gene sequencing. Projects have been delayed, and people’s jobs have been put at risk. Like Capitol Hill, medical research needs a lot of creative people with new ideas.”

Dr. Abecasis with Cong. John Dingell (D-MI), the Chairman Emeritus of the House Energy and Commerce Committee with oversight jurisdiction over the NIH
Dr. Abecasis with Cong. John Dingell (D-MI), the Chairman Emeritus of the House Energy and Commerce Committee with oversight jurisdiction over the NIH
Dr. Abecasis discusses the sequester’s impact on young scientists with Janelle McClure in the office of Senator Debbie Stabenow (D-MI)
Dr. Abecasis discusses the sequester’s impact on young scientists with Janelle McClure in the office of Senator Debbie Stabenow (D-MI)
Left to right: Michael Maroni (Alliance for Aging Research), Guy Eakin, Ph.D. (BrightFocus Foundation), Ruth Ann Burns (Regeneron, Inc.) and AEVR Executive Director James Jorkasky
Left to right: Michael Maroni (Alliance for Aging Research), Guy Eakin, Ph.D. (BrightFocus Foundation), Ruth Ann Burns (Regeneron, Inc.) and AEVR Executive Director James Jorkasky
Left to right: Tom Zampieri, Ph.D. and Don Overton (Blinded Veterans Association), Rebecca Hyder (American Academy of Ophthalmology) and AEVR’s David EpsteinLeft to right: Tom Zampieri, Ph.D. and Don Overton (Blinded Veterans Association), Rebecca Hyder (American Academy of Ophthalmology) and AEVR’s David Epstein
Dr. Abecasis (center) with Elaine Richman, Ph.D., left (Richman Associates) and Michael Duenas, O.D., right (American Optometric Association)
Dr. Abecasis (center) with Elaine Richman, Ph.D., left (Richman Associates) and Michael Duenas, O.D., right (American Optometric Association)