EYES OF AFRICA : THE GENETICS OF BLINDNESS

我们的合作中心“非洲之眼：失明的遗传学”将解决惊人的经济， 社会和个人成本的不可逆转的失明在非洲。最常见的永久性原因 在非洲失明的主要原因是原发性开角型青光眼（POAG），这是亚热带地区青光眼的主要类型。 撒哈拉非洲。多项研究发现，青光眼不成比例地影响非洲人， 与欧洲血统的对比作为一种疾病，开角型青光眼是导致永久性失明的最主要原因 因此，这是本提案的重点。我们将在2010年确定POAG的新易感基因， 为了奠定新的治疗干预的基础，进行撒哈拉以南非洲青光眼激光 试验（SSA-GLT）旨在确定早期治疗青光眼的最佳方法，并进行靶向治疗。 撒哈拉以南非洲地区青光眼筛查（TGS-SSA）：一种早期识别青光眼并增加 在撒哈拉以南非洲地区的青光眼的认识。成功完成将识别症状前青光眼 为了治疗，教育家庭有关疾病的知识，并确定引起早期疾病的高度渗透性突变， 青光眼发作我们的合作中心将以多种互补和 协同的方式，解决关键的方法，以确定，治疗和了解POAG在非洲。我们将 以我们现有的大型基因型样本数据集为基础，利用我们广泛的团队扩展此资源 分布在非洲各地的活跃受试者招募中心。简而言之，这项建议旨在提供 对减少非洲的失明有着直接和持久的影响。

Our Collaborative Center “Eyes of Africa: The Genetics of Blindness” will address the staggering economic, societal, and personal cost of irreversible blindness in Africa. The most common cause of permanent blindness in Africa is primary open angle glaucoma (POAG), which is the dominant type of glaucoma in Sub Saharan Africa (SSA). Multiple studies have found that glaucoma disproportionately affects people of African versus European ancestry. As a disease, POAG constitutes the single greatest cause of permanent blindness in Africa and for this reason is the focus of this proposal. We will identify new susceptibility genes for POAG in order to lay the foundation for novel therapeutic intervention, conduct the Sub-Saharan Africa Glaucoma Laser Trial (SSA-GLT) to identify the optimal approach for early treatment of glaucoma and conduct Targeted Glaucoma Screening in Sub Saharan Africa (TGS-SSA): An approach to identify glaucoma early and increase awareness of glaucoma in Sub-Saharan Africa. Successful completion will identify pre-symptomatic glaucoma for treatment, educate families about the disease, and identify highly penetrant mutations that give rise to early onset glaucoma. Our Collaborative Center will fight blindness in Africa in in multiple complementary and synergistic ways that address critical approaches to identify, treat, and understand POAG in Africa. We will build upon our existing large dataset of genotyped samples, expanding this resource using our extensive group of active subject recruitment sites distributed across Africa. In short, this proposal is designed to provide both an immediate and a long-lasting impact to reduce blindness in Africa.