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

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 科学合作伙伴计划为高中科学教师提供了在ONPRC实验室工作两个夏天的机会，并将他们学到的技术带回课堂。这位高中教师的项目集中在年龄相关性黄斑变性（AMD）的遗传学上，AMD是全球老年人视力丧失的主要原因。AMD的一个关键症状是在黄斑（视网膜的中心区域）中形成玻璃疣。玻璃疣是视网膜下的废物沉积物，最终会阻碍营养物质的转移并导致感光细胞死亡。非人类灵长类动物，包括猿和猴子，是唯一具有与人眼几乎相同的黄斑和其他视网膜特征的动物。恒河猴（Macaca mulatta）自发地发展玻璃疣，因此可以为研究AMD提供合适的模型。最近的人类研究发现了与AMD风险相关的遗传变异，包括三个基因中的单核苷酸多态性（SNP）：ARMS 2，HTRA 1和CFH。我们的实验室发现，恒河猴在ARMS 2和HTRA 1中也具有与玻璃疣风险较高相关的SNP，从而强烈证实了这两个物种中黄斑疾病的共同遗传因素，从而加强了猴子AMD模型的有用性。在过去的一年里，我们也开始探索恒河猴CFH基因的遗传变异。

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.