H3Africa Kidney Disease Research Network

H3非洲肾脏疾病研究网络

• 批准号: 8530165
• 负责人: Dwomoa Adu
• 金额: $ 99.49万
• 依托单位: NOGUCHI MEMORIAL INSTITUTE / MEDICAL RES
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-08-15 至 2017-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8530165
• 关键词: AIDS-Associated Nephropathy; Accounting; Address; Admixture; Adult; Affect; Africa; Africa South of the Sahara; African; African American; American; Applications Grants; Bioinformatics; Biometry; Candidate Disease Gene; Capital; Cardiovascular Diseases; Child; Childhood; Chronic Glomerulonephritis; Chronic Kidney Failure; Clinical; Clinical Data; Collection; Complication; Country; DNA Sequence; Development Plans; Diabetic Nephropathy; Dialysis procedure; Disease; Disease Progression; End stage renal failure; Environmental Risk Factor; Ethiopia; Etiology; European; Faculty; Family; Focal Segmental Glomerulosclerosis; Frequencies; Funding; Gene Mutation; Genes; Genetic; Genetic Predisposition to Disease; Genetic Research; Genetic Variation; Genome; Genomics; Ghana; Grant; Healthcare; Human; Human Genetics; Hypertension; Individual; Inherited; Institution; Kenya; Kidney; Kidney Diseases; Kidney Failure; Laboratories; Laboratory Research; Link; Linkage Disequilibrium; Maps; Michigan; Mutation; Mutation Analysis; Nephrosclerosis; Nephrosis; Nephrotic Syndrome; Nigeria; Outcome; Participant; Patients; Phenotype; Population; Prevention; Process; Renal Hypertension; Renal function; Research; Research Infrastructure; Research Personnel; Research Priority; Research Project Grants; Resources; Risk; Sahara; Science; Scientist; Sickle Cell; South Africa; Steroid Resistance; Target Populations; Technology; Training; Training Programs; United States National Institutes of Health; Universities; Variant; Vision; base; biobank; care burden; career development; case control; clinical phenotype; cohort; data management; disease phenotype; exome; exome sequencing; family genetics; genetic variant; genome wide association study; genome-wide linkage; high risk; human biological material; human subject protection; medical schools; novel; pre-doctoral; programs; prospective; repository; stem

It is estimated more than 500,000 individuals succumb to end stage renal disease annually in sub-Saharan Africa with an additional 50 million people suffering from pre-dialysis chronic kidney disease. Advanced genome-based analysis strategies, such as Mapping by Admixture Linkage Disequilibrium (MALD) in African Americans, have identified a strong association between single gene variants (e.g., MYH9 and AP0L1) and kidney disease. In addition, nearly 20 genetic variants have been linked to childhood onset nephrotic syndrome. Most of these genetic advances in elucidating the etiology of kidney disease have occurred outside sub-Saharan Africa where there is a shortage of genetic experts and the infrastructure for human genomic research is as sparse as the Sahara Desert itself. In this application, we propose to rapidly increase the capacity to conduct genomic studies of kidney disease in sub-Saharan Africa through a collaborative research network comprised of investigators based at 10 institutions in five African countries - pop. 362 million (Ethiopia, Ghana, Kenya, Nigeria and South Africa) and four North American institutions. The Network will accomplish the following seven objectives: (1) phenotype 8,000 kidney disease cases and controls (1:1); (2) conduct four genetic research projects addressing single gene mutation kidney disorders in affected families, genetic variants of single genes associated with kidney diseases in the populations and genome wide association studies; (3) establish two low-capital intensity, rugged and sustainable genomics research laboratories in Africa; (4) implement a customized six-track training and career development plan for African-based genomic researchers; (5) establish and maintain a Network-wide biospecimen repository that will harmonize seamlessly with the H3Africa Biorepository Grants (RFA-RM-11-011); (6) establish and maintain a Network-wide data management and bioinformatics facility that will effectively integrate with the H3Africa Bioinformatics Network (RFA-RM-11-010) and (7) cooperate and coordinate the activities of this Network with the H3Africa Consortium and the NIH Program Scientists/Staff. This application is submitted by the University of Ghana with substantial institutional support from the University of Michigan.

据估计，撒哈拉以南非洲地区每年有超过 500,000 人死于终末期肾病，另有 5000 万人患有透析前慢性肾病。先进的基于基因组的分析策略，例如非裔美国人的混合连锁不平衡图谱 (MALD) 分析，已确定单基因变异（例如 MYH9 和 AP0L1）与肾脏疾病之间存在密切关联。此外，近 20 种遗传变异与儿童期肾病综合征有关。大多数阐明肾脏疾病病因的遗传学进展都发生在撒哈拉以南非洲以外的地区，那里缺乏遗传学专家，人类基因组研究的基础设施也像撒哈拉沙漠一样稀少。在此应用中，我们建议通过由五个非洲国家 10 个机构的研究人员组成的合作研究网络，快速提高撒哈拉以南非洲地区肾脏疾病基因组研究的能力。 3.62 亿（埃塞俄比亚、加纳、肯尼亚、尼日利亚和南非）和四个北美机构。该网络将实现以下七个目标：（1）对8000个肾脏疾病病例和对照进行表型分析（1：1）； (2) 开展四个基因研究项目，解决受影响家庭中的单基因突变肾病、人群中与肾病相关的单基因遗传变异以及全基因组关联研究； (3) 在非洲建立两个资本密集度低、坚固且可持续的基因组学研究实验室； （4）为非洲基因组研究人员实施定制的六轨培训和职业发展计划； (5) 建立和维护一个网络范围的生物样本存储库，该存储库将与 H3Africa 生物存储库赠款 (RFA-RM-11-011) 无缝协调； (6) 建立和维护一个网络范围的数据管理和生物信息学设施，该设施将与 H3Africa 生物信息学网络 (RFA-RM-11-010) 有效整合，并且 (7) 与 H3Africa 联盟和 NIH 计划科学家/工作人员合作和协调该网络的活动。该申请由加纳大学提交，并得到密歇根大学的大力机构支持。