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DISCOVERY OF GENETIC VARIATION, THAT'S STRONGEST RISK FACTOR ASSOCIATED WITH AGE-RELATED MACULAR DEGENERATION
10 March 2005 - Boston University
| Researchers from Boston University School of Medicine, UT Southwestern Medical Center at Dallas, and SEQUENOM, Inc., report the discovery of a genetic variation, that is the strongest known risk factor associated with age-related macular degeneration. Published in the March 10, 2005, online issue of the journal Science, the study entitled “Complement Factor H Polymorphism and Age-Related Macular Degeneration,” details the discovery of the gene that may account for approximately fifty percent of the cases of AMD in the population. |
“Considering that AMD is such a common and complex condition with multiple risk factors, we did not expect that we would identify a gene that is responsible for almost half of the cases,” said author Lindsay A. Farrer, PhD, chief of the genetics program at BUSM, and a professor of medicine, neurology, genetics and genomics, epidemiology and biostatistics at BUSM. The biological basis of this disorder, which is the most common cause of blindness in the elderly, is unclear. However, it was strongly suspected that genetics did play a role. The researchers tested single nucleotide polymorphisms for association of AMD in a region of 14 million base pairs on chromosome 1q25-31 where a gene for AMD had been previously localized in families with multiple persons affected with AMD. Using two independent case-control populations, the researchers found that possession of at least one copy of histidine at position 402 of complement factor H increased the risk of AMD almost three-fold. “Given the rapid aging of the population, an estimated 3 million people will have complications of AMD by the year 2020. We hope our findings will create new avenues for developing preventative and therapeutic strategies for AMD,” added co-author and retina specialist Albert O. Edwards, MD, PhD, currently the President of the Institute for Retina Research at the Presbyterian Hospital of Dallas, Texas. Edwards conducted his research while on faculty at UT Southwestern. “We are pleased to be part of this important collaboration with BU School of Medicine and UT Southwestern, and that the use of our MassARRAY System helped contribute to the discovery of the genetic variations associated with AMD,” said Charles Cantor, PhD, SEQUENOMS’s chief scientific officer. This research was funded by UT Southwestern grants from the National Eye Institute and Research to Prevent Blindness.
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Boston University has a well-deserved reputation for excellence in research in a wide range of disciplines and a demonstrated commitment to fostering innovative interdisciplinary research. The Office of the Associate Provost for Research and Graduate Education supports the University in facilitating research at the both the student and faculty levels.Our mission is to enhance and encourage research at Boston University and to provide a climate conducive to maintaining the University at the cutting edge of research and scholarly activities. We work with the Boston University community to plan and coordinate interdisciplinary research and represent the University in research matters related to Inter-University consortia. To encourage new, innovative, and cross-disciplinary efforts, this office administers the Special Program for Research Initiation Grants (SPRInG). We showcase graduate research at Science & Technology Day. This annual event features nearly 200 research posters by graduate students from both the Medical and Charles River Campuses working in a wide range of disciplines. Our annual research magazine, Research at Boston University, informs a wide audience about a selection of our significant research findings and ongoing studies at Boston University. We also maintain a strong presence on the web through this site and through the Science Coalition’s website, which brings our research successes to the attention of Congress and other policy makers in the federal government. To assist Boston University researchers, this office oversees the Undergraduate Research Opportunities Program and coordinates with the Office of Sponsored Programs on the Charles River Campus , the research administration on the Medical Campus, the Office of Research Compliance, and the various graduate programs. For the development of commercially viable ideas, we administer the Provost's Innovation Fund and work closely with the Office of Technology Transfer. We also coordinate proposals where there are institutional limits to the number of proposals that may be submitted, cost sharing requirements, significant laboratory renovations, or other special circumstances. This office assists departments and centers to achieve a diverse faculty and graduate student body through our membership and activities with the Northeast Alliance for Graduate Education and the Professoriate and through our affiliation with the Clare Boothe Luce program of the Henry Luce Foundation. |
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