video: In a human stem cell, we utilized CRISPR-Cas9 gene editing technology to induce a DNA break specifically at the end of the KCC2 gene. At the site of the break, we inserted a gene called luciferase, the gene in fireflies that makes them glow. After expansion of these gene-edited human stem cells, they were transformed into human neurons and placed into 384-well plates. We then administered a unique drug to each well and observed which drugs caused neurons to light up with luciferase, indicating that these drugs increase KCC2 gene expression. Further focused testing revealed that these drugs exert therapeutic benefit on human neuron and mouse models of an autism-related disorder called Rett syndrome. This material relates to a paper that appeared in the Jul. 31, 2019, issue of Science Translational Medicine, published by AAAS. The paper, by author at institution in location; and colleagues was titled, " paper title." view more
Credit: Animated by Andrew Tubelli, Copyright: Whitehead Institute, 2019