Human Heredity and Health in Africa Consortium Biorepository

非洲人类遗传与健康联盟生物样本库

• 批准号: 10622395
• 负责人: Elizabeth Mayne
• 金额: $ 23.57万
• 依托单位: WITS HEALTH CONSORTIUM (PTY), LTD
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-19 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10622395
• 关键词: Accreditation; Advocate; Affect; Africa; African; COVID-19 pandemic; Chairperson; Clinical; Complex; Core Facility; Cost efficiency; DNA; Data; Deposition; Discipline; Education and Outreach; Ensure; Funding; Future; Genetic Predisposition to Disease; Genetic study; Genomic DNA; Genomics; Health; Heredity; Human; Infrastructure; Institution; International; Internships; Laboratories; Marketing; Master of Science; Medical; Medicine; Nucleic Acids; Policies; Postdoctoral Fellow; Principal Investigator; Privatization; Protocols documentation; Quality Control; RNA; Research; Research Personnel; Research Project Grants; Sampling; Science; Scientist; Services; Site; South Africa; South African; Specimen; Telefacsimile; Temperature; Time; Training; Universities; Validation; Wales; Wit; base; biobank; cohort; cost; developmental disease; exome sequencing; hereditary hearing loss; improved; innovation; instrument; next generation sequencing; professor; student training

Principal Investigator: Institution: Project Title: Time Period: Project Summary Professor Elizabeth Mayne Clinical Laboratory Services Biorepository August 2022 - July 2023 Specific Aim 1: To provide state-of-the-art sustainable and affordable storage facilities for genomic DNA and additional samples from H3 Africa research projects and other collaborators in an accredited facility. Milestone 1: Optimization of storage services. We aim to encourage the storage of additional samples by improved marketing strategies and improved cost-efficiency. Due to the COVID-19 pandemic national lockdown in South Africa, the site engagement activities have been severely affected. The biorepository has engaged the submission sites to obtain a date for deposit of all samples. See table below for the site engagement status: Submission siteand PI Expected Samples Samples Deposited Status Deciphering Developmental Disorders in Africa (DDD-Africa) Evaluating Clinical Exome Sequencing in an African Setting. WITS S/Africa Professor Zane Lombard 1500 DNA samples 250 All samples to be deposited by the second quarter of 2023 Hearing Impairment Genetics Studies in Africa (HI-GENES Africa) University of Cape Town, South African Professor Ambroise Wonkam 1250 DNA samples 250 All samples to be deposited by the second quarter of 2023 Milestone 2: Optimization of nucleic acid quality control protocols (in the context of a comprehensive biorepository service). The biorepository conducts policy-mandated DNA and RNA quality control on a defined number of nucleic acid samples. 1|Page Specific Aim 2: To provide value-added and innovative biorepository services for sample processing. Milestone 1: Continue full next-generation sequencing core facility at CLS Next generation sequencing has been is a core functionality of the sustainability plan. This will be available as a backup and validation instrument for H3 Africa partners and future collaborators. Milestone 2: To optimize a protocol for ambient storage of nucleic acid. Investigate ambient temperature storage as an attractive strategy to reduce cost. Specific Aim 3: Advocate for biorepository science nationally and internationally Milestone 1: Establishment of biorepository training and outreach. A key aim is to build capacity for genomic research and associated disciplines and to provide training for students who are registered for masters of Science (Medicine) degree, medical professionals including intern medical scientists in biorepository science. 2|Page

首席调查员： 机构： 项目名称： 时间段： 项目摘要 伊丽莎白·梅恩教授 临床实验室服务 生物资源库 2022年8月至2023年7月 具体目标1：为基因组提供最先进的可持续和负担得起的存储设施 来自H3非洲研究项目和其他合作者的DNA和其他样本 设施。 里程碑1：优化存储服务。 我们的目标是通过改进营销策略和改进来鼓励存储更多的样品 成本效益。 由于新冠肺炎疫情在南非全国范围内的封锁，该网站的参与活动 受到严重影响。 生物库已与提交地点接洽，以获得所有样本的存放日期。 有关现场参与状态，请参阅下表： 提交站点和PI 预期 样本 样本 存放状态 解读发育性障碍 在非洲(DDD-非洲)评估 中国人的临床外显子组测序 非洲背景。机智S/非洲 赞恩·隆巴德教授 1500个DNA 样本250个 所有样品均为 由第二个人存放 2023年第四季度 听力障碍遗传学研究 在非洲(HI基因非洲) 开普敦大学，南部 非洲 Ambroise Wonkam教授 1250 DNA 样本250个 所有样品均为 由第二个人存放 2023年第四季度 里程碑2：优化核酸质量控制协议(在全面的 生物存储库服务)。 生物库对定义的数量进行政策强制的DNA和RNA质量控制 核酸样本。 1|页码 具体目标2：为样品加工提供增值和创新的生物库服务。 里程碑1：在CLS继续全面的下一代测序核心设施 下一代测序一直是可持续发展计划的核心功能。这将是 可作为H3非洲合作伙伴和未来合作者的备份和验证工具。 里程碑2：优化核酸常温储存的方案。 研究环境温度存储作为降低成本的一种有吸引力的策略。 具体目标3：在国内和国际上倡导生物信息库科学 里程碑1：建立生物库、培训和外联。 一个关键目标是建设基因组研究和相关学科的能力，并为 注册理科(医学)硕士学位的学生，医学专业人员包括 生物信息库科学方面的实习医学家。 2|页码

项目成果

Evaluation Protocol for SARS-CoV-2 Serological Assays.

SARS-CoV-2 血清学检测评估方案。

• DOI: 10.1007/978-1-0716-2395-4_23
• 发表时间: 2022
• 期刊: Methods in molecular biology (Clifton, N.J.)
• 作者: Gededzha,MaemuP;Jugwanth,Sarika;Mampeule,Nakampe;Zwane,Nontobeko;David,Anura;Scott,Lesley;Stevens,Wendy;Mayne,ElizabethS
• 通讯作者: Mayne,ElizabethS

SARS-CoV-2 Host Immunogenetic Biomarkers.

SARS-CoV-2 宿主免疫遗传生物标志物。

• DOI: 10.1007/978-1-0716-2395-4_10
• 发表时间: 2022
• 期刊: Methods in molecular biology (Clifton, N.J.)
• 作者: Gededzha,MaemuP;Mampeule,Nakampe;Gandini,Anastasia;Mayne,ElizabethS
• 通讯作者: Mayne,ElizabethS