No abstract

CHM) is in the process of establishing the first rare disease (RD) biobank in South Africa and Africa. The CHM Biobank's main focus is on the collection of samples and information for rare congenital disorders. Approximately 72% of all RDs have a genetic origin, of which 70% have an exclusive pediatric onset. The need for such a biobank was identified by the CHM diagnostic laboratory. Feedback toward this initiative was overwhelmingly positive at the first stakeholder meeting in August 2019. However, gaining support from the public sector and recruiting of participants have proven to be challenging. Problems experienced to date include lack of support from government and clinicians; lack of knowledge on RDs (patients and clinicians); public health care focus not directed toward RDs; patients not returning for follow-up visits; and unwillingness to participate due to fear of exploitation. The CHM Biobank's vision and goals are aligned to address a national and international research need: it will provide a valuable resource for scientists to improve what is known about these diseases; to better understand the natural history and pathophysiology; to optimize diagnostic methods; and to potentially develop treatments. The genetic variability of the South African population provides added value to the RD biobank. This review provides a brief overview of the literature on the challenges and benefits of an RD biobank and how this relates to low-and middle-income countries (LMIC) like South Africa. The aim of the review is to draw attention to the potential benefits of such an undertaking and to create awareness, at both local and global level, toward some of the unique collective considerations that an RD biobank in LMIC (also unique South African challenges) faces on an operational, collaborate, and sustainability level.

Limited data currently exist for atmospheric organic carbon (OC) and black carbon (BC) in South Africa (SA). In this paper OC and BC measured in SA were explored in terms of spatial and temporal patterns, mass fractions of the total aerosol mass, as well as possible sources. PM 10 and PM 2.5 samples were collected at five sites in SA operated within the Deposition of Biogeochemical Important Trace Species-IGAC DEBITS in Africa (DEBITS-IDAF) network. OC were higher than BC concentrations at all sites in both size fractions, while most OC and BC occurred in the PM 2.5 fraction. OC/BC ratios reflected the location of the different sites, as well as possible sources impacting these sites. The OC and BC mass fraction percentages of the total aerosol mass varied up to 24% and 12%, respectively. A relatively well defined seasonal pattern was observed, with higher OC and BC measured from May to October, which coincides with the dry season in the interior of SA. An inverse seasonal pattern was observed for the fractional mass contributions of OC and BC to the total aerosol mass, which indicates substantially higher aerosol load during this time of the year. The relationship between OC and BC concentrations with the distance that air mass back trajectories passed by biomass burning fires and large point sources proved that biomass burning fires contribute significantly to regional OC and BC during the burning season, while large point sources did not contribute that significantly to regional OC and BC. The results from a highly industrialised and populated site also indicated that household combustion for space heating contributed at least to local OC and BC concentrations.

T he Centre for Human Metabolomics (CHM) Biobank was established in the beginning of 2019 and is the first congenital rare disease biobank in South Africa and Africa. Congenital disorders are a very important cause of spontaneous abortions, stillbirths, infant and childhood deaths, as well as chronic illness and disability.