Human Heredity and Health in Africa Consortium Biorepository

主要研究者： 机构名称： 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 Biorepository 2022年8月至2023年7月 具体目标1：提供最先进的可持续和负担得起的基因组储存设施 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市场营销策略和提高 成本效益。 由于南非的COVID-19疫情全国封锁， 受到严重影响。 生物储存库已与提交地点接洽，以获得所有样品的存款日期。 研究中心参与状态见下表： 提交地点和PI 预计 样品 样品 存款状态 解读发育障碍 （DDD-非洲） 临床外显子组测序 非洲设置WITS/非洲 赞内·隆巴德教授 小行星1500 样品250 所有样品 由第二个 2023年季度 听力障碍遗传学研究 （HI-GENES Africa） 南开普敦大学 非洲 Ambroise Wonkam教授 小行星1250 样品250 所有样品 由第二个 2023年季度 里程碑2：核酸质量控制方案的优化（在全面的 生物储存服务）。 生物储存库对规定数量的DNA和RNA进行政策规定的质量控制， 核酸样本。 1|页面 具体目标2：为样品处理提供增值和创新的生物储存服务。 里程碑1：继续在CLS建设完整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：优化核酸环境储存方案。 研究环境温度储存作为降低成本的有吸引力的策略。 具体目标3：在国内和国际上倡导生物保藏科学 里程碑1：建立生物储藏培训和外联。 一个关键目标是建立基因组研究和相关学科的能力，并为以下方面提供培训： 谁是注册科学硕士（医学）学位的学生，医疗专业人员，包括 生物储藏科学的实习医学科学家 2|页面

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