PARTNERS-IN-SCIENCE PROGRAM: GENETICS OF AGE-RELATED EYE DISEASE

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The Partners-In-Science program provides opportunities for high school science teachers to work in ONPRC laboratories for two summers, and bring the techniques they learn back to their classrooms. The high school teacher's project focused on the genetics of age-related macular degeneration (AMD), the leading cause of vision loss in the elderly worldwide. A key symptom of AMD is the formation of drusen in the macula, the central area of the retina. Drusen are deposits of waste products under the retina that can eventually block transfer of nutrients and lead to photoreceptor death. Nonhuman primates, including apes and monkeys, are the only animals that have a macula and other retinal characteristics nearly identical to the human eye. Rhesus monkeys (Macaca mulatta) spontaneously develop drusen and therefore can provide an appropriate model for studying AMD. Recent human studies have found genetic variations that are associated with the risk of AMD, including single nucleotide polymorphisms (SNPs) in three genes: ARMS2, HTRA1 and CFH. Our laboratory found that rhesus monkeys also have SNPs in both ARMS2 and HTRA1 that are associated with higher risk of drusen, thus strongly confirming common genetic factors for macular disease in the two species and thus strengthening the usefulness of the monkey AMD model. In the past year we also began exploration of genetic variants in the rhesus CFH gene.