Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders

Wooseok Im, Jangsup Moon, Manho Kim; Review Article, J Mov Disord 2016; 9(3): 136-143. Published online: September 21, 2016 DOI:10.14802/jmd.16029

Genome editing using CRISPR/Cas9 is possible in various cell lines, including human induced pluripotent stem cells, which can be utilized as a valuable in vitro tool for the investigation of specific mutations in the pathogenesis of various disorders. For example, Vannocci et al. developed a novel cellular model of Friedreich’s ataxia, which is an autosomal recessive ataxia caused by reduced levels of frataxin, using CRISPR/Cas9 to stably introduce the disease frataxin gene into cells.