Neurogenomics in Africa: Perspectives, progress, possibilities and priorities

Abstract

The understanding of the genetic basis of neurological disorders has grown rapidly in the last two decades. Despite the genomic heterogeneity within African populations, large-scale candidate gene or linkage and exome studies are lacking. However, current knowledge on neurogenetics in African populations is limited and geographically very uneven. Isolated reports indicate the existence of autosomal dominant or recessive conditions incorporating cerebrovascular, movement, neuromuscular, seizure and motor neuron disorders in Africans. In addition, few African families with neurodegenerative disorders associated with dementia have been characterized in North, West and South Africa. The current insurgency in genomic research triggered by among others the Human Health and Heredity (H3) Africa Initiative indicates that there are unique opportunities to advance our knowledge and understanding of the influence of genomic variation on the pattern, presentations and prognosis of neurological disorders in Africa. These have enormous potential to unmask novel genes and molecular pathways germane to the neurobiology of brain disorders. It would facilitate the development of novel diagnostics, preventative and targeted treatments in the new paradigm of precision medicine. Nevertheless, it is crucial to strike a balance between effective traditional public health strategies and personalized genome based care. The translational barriers can be overcome through robust stakeholder engagement and sustainable multilevel, multigenerational and multidisciplinary capacity building and infrastructural development for genomic medicine in Africa.

Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities

“…18, 19, 35 This is the reason African ancestry data is critically needed (in independent and trans-ethnic analyses) to fine-map loci previously identified in GWAS studies of European populations so as to pinpoint specific causal variant(s) and gene(s) for various complex diseases including stroke. 5, 47 …”

“…Delineation of molecular mechanisms of validated genomic determinants of stroke can facilitate the development of a new array of precise biomarkers for stroke prediction, diagnosis and prognostic estimates as well as discovery of new therapeutic targets for personalized interventions 19 . These developments could revolutionize stroke prevention, treatment and recovery globally.…”

Interleukin–6 ( IL-6 ) rs1800796 and cyclin dependent kinase inhibitor ( CDKN2A/CDKN2B ) rs2383207 are associated with ischemic stroke in indigenous West African Men

“…Stroke-free status of controls recruited for the SIREN was ascertained using a locally-validated version of the Questionnaire for Verifying Stroke-Free Status (QVSFS) with a modification to include pictograms of stroke symptoms with improved sensitivity and specificity. 8,9 …”

20 years of African Neuroscience: Waking a sleeping giant

“…Africa accounts for 15% of the global population but 25% of the global disease burden 1 . Moreover, the continent has the world's largest human genetic diversity, with important implications for understanding human diseases 2 , including neurological disorders 3,4 . However, even though early progress in neuroscience began in Egypt 5 , Africa's research capacity remains weak 6 .…”