The Sydney Declaration - An unique opportunity for Africa.

The Sydney Declaration (SD) has the inherent virtue of shifting the focus from the tools used in forensic science to the fundamental characteristics of appropriate forensic practice analysis of a situation and all related trace data for the purpose of resolving a case. Though several differences might be observed between countries regarding the technologies used, the fundamental principle of forensic logical reasoning are universally applicable to all contexts and environments and not only restricted to sophisticated, well-resourced, established forensic science laboratories based in countries that offer adequate resources, strong networks and legal frameworks. In Africa, several countries lack resources to train practitioners and to develop forensic science institutes, laboratories and other relevant institutions.

Ethical and practical issues to consider in the governance of genomic and human research data and data sharing in South Africa: a meeting report.

Genomic research and biobanking has undergone exponential growth in Africa and at the heart of this research is the sharing of biospecimens and associated clinical data amongst researchers in Africa and across the world. While this move towards open science is progressing, there has been a strengthening internationally of data protection regulations that seek to safeguard the rights of data subjects while promoting the movement of data for the benefit of research. In line with this global shift, many jurisdictions in Africa are introducing data protection regulations, but there has been limited consideration of the regulation of data sharing for genomic research and biobanking in Africa.

Characterization of the genetic variation present in CYP3A4 in three South African populations.

The CYP3A4 enzyme is the most abundant human cytochrome P450 (CYP) and is regarded as the most important enzyme involved in drug metabolism. Inter-individual and inter-population variability in gene expression and enzyme activity are thought to be influenced, in part, by genetic variation. Although Southern African individuals have been shown to exhibit the highest levels of genetic diversity, they have been under-represented in pharmacogenetic research to date.

Compound heterozygosity in a South African patient with facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35.

Protective effect against type 2 diabetes mellitus identified within the ACDC gene in a black South African diabetic cohort.

Type 2 diabetes mellitus (T2D) is currently one of the fastest growing noncommunicable diseases in the world. It is induced by the pathogenic interaction between insulin resistance and secretion. This group of clinically heterogeneous disorders currently affects approximately 4% of the general population, but it is rapidly increasing, especially in developing regions such as sub-Saharan Africa.

Metallothionein isoform 2A expression is inducible and protects against ROS-mediated cell death in rotenone-treated HeLa cells.

The role of MT (metallothionein) gene expression was investigated in rotenone-treated HeLa cells to induce a deficiency of NADH:ubiquinone oxidoreductase (complex I). Complex I deficiency leads to a diversity of cellular consequences, including production of ROS (reactive oxygen species) and apoptosis. HeLa cells were titrated with rotenone, resulting in dose-dependent decrease in complex I activity and elevated ROS production at activities lower than 33%.

Natural selection shaped regional mtDNA variation in humans.

Human mtDNA shows striking regional variation, traditionally attributed to genetic drift. However, it is not easy to account for the fact that only two mtDNA lineages (M and N) left Africa to colonize Eurasia and that lineages A, C, D, and G show a 5-fold enrichment from central Asia to Siberia. As an alternative to drift, natural selection might have enriched for certain mtDNA lineages as people migrated north into colder climates.

A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes.

The variation of 77 biallelic sites located in the nonrecombining portion of the Y chromosome was examined in 608 male subjects from 22 African populations. This survey revealed a total of 37 binary haplotypes, which were combined with microsatellite polymorphism data to evaluate internal diversities and to estimate coalescence ages of the binary haplotypes. The majority of binary haplotypes showed a nonuniform distribution across the continent.