Global Genomic Diversity: History, Adaptation and Health
Charles N. Rotimi National Institutes of Health, USA
The global appreciation of the extent of human genomic diversity and the implications for understanding human history and health is growing at a tremendous pace. This success story is due to several factors including improved sequencing technologies and computation infrastructure, lower costs and perhaps more importantly, the engagement of populations with diversity ancestral backgrounds. As a result, we are gaining insights that is improving our understanding of why susceptibility to common diseases varies among individuals, families and populations. Furthermore, we are using this new knowledge to improve the efficacy and safety of therapeutic drugs. Notably, deeper understanding of global genomic diversity is allowing scientists to address fundamental questions about our origins, our differences, and our similarities. In this presentation, I will provide a brief review of the current knowledge of human genomic diversity and how this knowledge is contributing to our understanding of human evolutionary history, health and the complex issues surrounding group identity including the notion of “race”. Using multiple examples, I will show how genetic adaptations that took place across Africa, particularly against fatal pathogens and ecological forces, have resulted in elevated frequencies of alleles conferring survival advantages detectable in present-day African ancestry individuals on the continent and in the Diaspora. These examples will also illustrate how some of these alleles have become maladaptive in modern-day environments.