Huxley and Darwin were among the first to appreciate the close evolutionary relationship of humans and other African great apes but also to ponder what genetic changes might make us human. Initial comparisons of human and chimpanzee genes, showed little difference (>99% identical) despite the numerous adaptations that must have occurred on the human lineage. Recent studies of more complex regions of our genome have revealed hotspots of dramatic evolutionary change. Within these regions are hundreds of new duplicate genes, several of which appear to be important in human-specific neuroanatomical adaptations. Paradoxically, this genetic complexity has led to mutations causing childhood diseases suggesting that human-specific genes and increased disease burden are tightly linked. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Science] [Show ID: 32976]