Genome Editing in Stem Cells

Monumental advances in molecular biology over the past few decades have provided us with tools that have revolutionized the study of genetics. With the expansive amount of information gained by the sequencing of the human genome, scientists have been charged with the task of attributing cellular phenomena to the information encoded by genes. A “reverse genetics” approach has been employed by introducing specific modifications in the expression of a particular gene to examine the resulting phenotype. While initial techniques revolved around interference at the post-transcriptional level, targeting the genome directly has enhanced our ability to study gene function. In this chapter, we will discuss the history of genome editing, the various technologies to modify the genome and, in particular, highlight the CRISPR/Cas9 system. Due to its versatility and ease of programmability, CRISPR/Cas9 captivates the attention of scientists and is crucial to elucidate genetic function. Now, scientists can emulate monogenic diseases to study pathogenesis on the molecular and cellular levels. In addition, medical personnel could revert a deleterious mutation to its wild-type form as a potential genetic therapy. Genome editing has already advanced and continues to advance academic research and personalized medicine to unprecedented heights.