Knockout Genes in Humans Provide Insight on Gene Function and Drug Development

By Ben Ladabaum ’20

One of the main tools scientists have used to study gene function in humans is to deactivate a particular gene in lab animals such as mice and observe the effects of having the particular gene deactivated. In an innovative adaptation of this technique, scientists have recently begun examining naturally occurring mutations in humans as a way to study the effects of specific genes. Performing studies on humans as opposed to mice and rats is much more relevant to drug development and our understanding of the human genome.

Most people contain copies of around 20 nonfunctional genes. Although many people associate genetic mutations with diseases such as cystic fibrosis and Marfan syndrome, most mutations are harmless and almost unnoticeable, and some can even have positive effects. Because mutations occur randomly, knockout gene studies require gene sequencing across large populations in order to acquire enough data for a rigorous analysis of a particular gene.

Despite the vast amount of data required, scientists have already linked the presence of various nonfunctional genes to increased risk of heart disease, lower cholesterol, miscarriages, and many more health effects (both positive and negative). Such gene specific information has given pharmaceutical companies a new strategy in developing drugs.  Many companies have allocated significant resources towards the research and development of drugs that target and inactivate specific genes, and this trend will no doubt continue as more and more data is compiled on the human genome.

The success of this technique has not only excited pharmaceutical companies, but also academic researchers, who believe we are on the cusp of a obtaining deep understanding of the human genome. Many universities and scientific institutions have begun focusing their efforts on knockout genes, as evidenced by projects such as the Broad Institute’s Human Knockout Project. Such studies will greatly expand the available data on human genes, and as a result, greatly accelerate the development of gene-targeting drugs. With so much effort being directed towards identifying the effects of knockout genes, the burgeoning field of knockout genetics has a bright future.


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