H3Africa Kidney Disease Research Network

H3非洲肾脏疾病研究网络

基本信息

批准号：
8728984
负责人：
Dwomoa Adu
金额：
$ 100.26万
依托单位：
NOGUCHI MEMORIAL INSTITUTE / MEDICAL RES
依托单位国家：
美国
项目类别：
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/8728984
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 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

项目摘要

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，在撒哈拉以南非洲，每年有超过50万人屈服于终止阶段肾脏疾病，又有5000万人患有疾病前慢性肾脏疾病。基于先进的基因组分析策略，例如非裔美国人的混合链接不平衡（MALD）的映射，已经确定了单个基因变异（例如MyH9和AP0L1）与肾脏疾病之间的密切关联。此外，将近20种遗传变异与儿童发作肾病综合征有关。阐明肾脏疾病病因的大多数遗传进步都发生在撒哈拉以南非洲以外，那里缺乏遗传专家，人类基因组研究基础设施与撒哈拉沙漠本身一样稀疏。在此应用程序中，我们建议通过一个由五个非洲国家（POP）的10个机构的研究人员组成的协作研究网络，迅速提高撒哈拉以南非洲进行肾脏疾病的基因组研究的能力。 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）8,000个肾脏疾病病例和对照组（1：1）；（2）进行四个遗传研究项目，以解决受影响家庭中的单基因突变肾脏疾病，与人群中与肾脏疾病相关的单基因的遗传变异和基因组广泛的关联研究；（3）在非洲建立两个低资本强度，坚固耐用的基因组学研究实验室；（4）为基于非洲的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测量存储库，该存储库将与H3africa Biorepository赠款无缝地协调（RFA-RM-11-11-011）；（6）建立并维护范围内的数据管理和生物信息学设施，该设施将有效地与H3AFRICA BioInformatics网络（RFA-RM-11-010）和（7）合作并协调与H3AFRICA联盟和NIH计划科学家/员工的合作和协调该网络的活动。加纳大学在密歇根大学的大力机构支持下提交了该申请。