EYES OF AFRICA : THE GENETICS OF BLINDNESS

非洲之眼：失明的遗传学

基本信息

批准号：
9769135
负责人：
Adeyinka O Ashaye
金额：
$ 75万
依托单位：
COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-09-20 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9769135
关键词：
Address Affect Africa Africa South of the Sahara African African American Age Aged, 80 and over Asians Awareness Baltimore Blindness Caregivers Cataract Caucasians Clinical Communities Data Data Set Disease Early Diagnosis Early treatment Economics Enrollment European Eye Family Family Study Foundations Genetic Genetic Predisposition to Disease Genotype Glaucoma Individual Inherited Lasers Life Medical Methods Mutation Patients Population Poverty Prevalence Primary Open Angle Glaucoma Randomized Resources Risk Sampling Schools Scourge Site Surveys Susceptibility Gene Therapeutic Intervention Time Trabeculectomy Work base blind care providers case control clinical care comparative efficacy cost design early onset eye center fighting gene discovery genetic risk factor high risk improved insight new therapeutic target novel novel strategies novel therapeutic intervention operation population based recruit screening trait treatment response virtual

项目摘要

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.

我们的合作中心“非洲之眼：失明的遗传学”将解决令人震惊的经济、非洲不可逆转失明的社会和个人成本是永久性失明的最常见原因。非洲的失明是原发性开角型青光眼（POAG），这是非洲青光眼的主要类型撒哈拉非洲 (SSA) 多项研究发现，青光眼对非洲人的影响尤为严重。与欧洲血统相比，POAG 是导致永久性失明的最大原因。在非洲，因此这是本提案的重点，我们将在非洲确定 POAG 的新易感基因。为了为新型治疗干预奠定基础，开展撒哈拉以南非洲青光眼激光治疗试验（SSA-GLT）以确定青光眼早期治疗的最佳方法并进行有针对性的治疗撒哈拉以南非洲地区青光眼筛查 (TGS-SSA)：一种早期发现青光眼并提高青光眼筛查率的方法撒哈拉以南非洲地区青光眼意识的成功完成将识别症状前的青光眼。为了治疗，对家庭进行有关该疾病的教育，并识别引起早期疾病的高渗透性突变我们的合作中心将以多种互补和合作的方式在非洲抗击失明。我们将采用协同方法来解决识别、治疗和理解非洲 POAG 的关键方法。以我们现有的大型基因分型样本数据集为基础，利用我们广泛的团队扩展此资源简而言之，该提案旨在提供两者。对减少非洲失明产生直接和持久的影响。