Human Heredity and Health in Africa Consortium Biorepository

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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