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. Ms. Van Der Volgen'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 showed that a single nucleotide polymorphism (SNP) in the genetic locus LOC387715 was associated with AMD progression, suggesting that this locus may be involved in AMD pathogenesis. A study in our laboratory then found that rhesus monkeys, like humans, show an association between a particular SNP in the LOC387715 locus and the presence of drusen; in a sample of unrelated animals, the CC genotype at position 10682 was found to be associated with a higher frequency of drusen than the heterozygous CT genotype (C=cytosine, T=thymine). The present complementary study examined the disease-associated LOC387715 SNP in related rhesus macaques in several families with a high prevalence of drusen.