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Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
摘要： PURPOSE. A majority of genes associated with inherited retinal diseases (IRDs) have been identi?ed in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whole-exome sequencing (WES) to examine variants in known IRD genes in underrepresented African cohorts. METHODS. Whole-exome sequencing was performed on 56 samples from 16 families with diverse IRD phenotypes that had remained undiagnosed after screening for known mutations using genotyping-based microarrays (Asper Ophthalmics). Variants in reported IRD genes were identi?ed using WES and validated by Sanger sequencing. Custom TaqMan assays were used to screen for identi?ed mutations in 193 unrelated indigenous Africans with IRDs. RESULTS. A total of 3494 variants were identi?ed in 217 known IRD genes, leading to the identi?cation of seven different mutations (including six novel) in six genes (RHO, PRPF3, PRPF31, ABCA4, CERKL, and PDE6B) in six distinct families. TaqMan screening in additional probands revealed identical homozygous CERKL and PDE6B variants in four more patients. CONCLUSIONS. This is the ?rst report of WES of patients with IRDs in indigenous African populations. Our study identi?ed genetic defects in almost 40% of the families analyzed, signi?cantly enhancing the molecular diagnosis of IRD in South Africa. Thus, WES of understudied cohorts seems to present an effective strategy for determining novel mutations in heterogeneous retinal diseases.
关键词： genetic testing,vision loss,inherited blindness,South Africa,retinal degeneration,next generation sequencing,photoreceptor dysfunction,clinical genetics
更新于2025-09-11 14:15:04
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AIP Conference Proceedings [Author(s) SolarPACES 2017: International Conference on Concentrating Solar Power and Chemical Energy Systems - Santiago, Chile (26–29 September 2017)] - Systems approach to concentrated solar power (CSP) technology adoption in South Africa
摘要： To meet its future energy demand, the government of South Africa set up an Integrated Resource Plan (IRP) with the primary objective of determining its long-term electricity demand, and indicating how this demand should be met, in terms of generation type and timing. The IRP in 2010 presented the favoured energy generation techniques in SA, and it allocated 17 800 MW (42%) of the total energy mix in 2030 to renewable energy technologies (RETs). To achieve this target, the Renewable Energy Independent Power Producer Procurement Programme (REI4P) was launched and wind, solar photovoltaic (PV) and concentrating solar power (CSP) have been favoured mostly in the bids rolled out thus far. South Africa has been identified as one of the world’s best destinations for CSP because of the available solar resources, and a total of 600 MW of CSP had been purchased in the REIPPPP bids. However, the IRP update of 2016 threw CSP out of the future energy plans, when it gave no share to new electricity generation from it beyond 2030. This has created growing uncertainty of the future of CSP in South Africa. There is therefore an urgent need for collective efforts to present a broad and detailed value proposition in terms of present and prospects of CSP, and how it can be developed and deployed in the country to foster a lower tariff, encourage adoption, and ensure its return to the IRP. The study presented in this paper used a system dynamics approach to analyse the unique, critical and complex factors that affect the deployment of CSP in South Africa, as identified by concerned policy-makers, CSP experts, and existing studies. The result from this study shows that improved support for research is the most effective way to open new methods and ways in which the CSP technologies can be deployed, which will foster further CSP adoption in South Africa.
关键词： Renewable Energy Technologies (RETs),Integrated Resource Plan (IRP),South Africa,System Dynamics,Concentrated Solar Power (CSP)
更新于2025-09-09 09:28:46
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Inherited retinal disorders in South Africa and the clinical impact of evolving technologies
摘要： Retinal degenerative disorders (RDDs) encompass a group of inherited diseases characterised by vision loss. The genetic and clinical complexity poses a challenge in unravelling the molecular genetic aetiology of this group of disorders. Furthermore, the population diversity in South Africa (SA) presents researchers with a particularly complicated task. Rapid advances in the development of cutting-edge technological platforms over the past two decades, however, have assisted in overcoming some of the challenges. The RDD research team has utilised these escalating technologies, which has facilitated a corresponding increase in molecular diagnoses. A biorepository has been established and comprises ~3 200 patient DNA samples archived with many forms of RDD (including retinitis pigmentosa, macular dystrophies, Stargardt disease, Leber congenital amaurosis, Usher syndrome and Bardet Biedl syndrome). A comprehensive review is presented of the SA journey spanning 25 years, into elucidating the molecular genetic basis of various forms of RDD in SA.
关键词： molecular genetics,biorepository,genetic diagnosis,Retinal degenerative disorders,South Africa
更新于2025-09-04 15:30:14