|An example of genetic variance across different regions of the world (picture from Wikimedia Commons)|
In the quest to figure out how specific genes work in laboratory mice, creating "knockout" mice is usual the way to go. In this practice, a specific gene is targeted and eliminated to see how it affects its functioning. For obvious reasons, creating "knockout" humans is not a feasible way to study the effects of missing genes in humans.
Recently, there has been a push by researchers to look for the effects of naturally occurring knockout humans. One such study focuses specifically on individuals from Pakistan. This study notes the prevalence of knockout humans as a result of consanguineous mating practices in a group of Pakistanis participating in a long-term study of heart disease and diabetes. Researchers were intrigued to find that the absence of some genes seemed to have no negative affects on their health; furthermore, researchers concluded that such knockouts help explain why some drugs are more effective than others in terms of a person's individual genome.
Overall, there is now multiple calls for a Human Knockout Project to document such findings in a single database. As the picture above helps illustrate, genes vary across populations; thus specific drugs may have varying efficiency in their modes of action based on the overall genetic composition of a population. Hopefully such a database drawn from large population studies would lead to a more personalized medicine approach to treating certain illnesses. This is relevant now, especially with population genetics being the subject of our current lectures.