| dc.description.abstract | Estimated human genetic diversity is 0.1%, meaning that any two individuals differ at approximately one in every thousand base pairs. A small proportion of these genetic variants have functional consequences affecting health, including susceptibility to infections, diseases, and response to different drugs. Advancements in high-throughput sequencing technology have provided more insight into human genetic makeup and enabled better understanding of the link between genetic variations and health outcomes. However, despite considerable progress in human genetics, there are still many diseases that, given their complexity, cannot be explained simply by the genetic variants present and the involvement of factors such as epigenetics, environmental factors, and gene–environment interactions must be considered. We will discuss how human genetic diversity helps us to uncover the underlining mechanisms in monogenic, complex, and infectious diseases leading to a personalized approach to drug development and treatment. | |
