Wenyin He

β-Thalassemia (β-Thal) is one of the most common genetic diseases in the world. The generation of patient-specific β-Thal-induced pluripotent stem cells (iPSCs), correction of the disease-causing mutations in those cells, and then differentiation into hematopoietic stem cells offers a new therapeutic strategy for this disease. Here, we designed a CRISPR/Cas9 to specifically target the Homo sapiens hemoglobin β (HBB) gene CD41/42(−CTTT) mutation.

Author contributions: NXH conducted most of the experiments, analyzed the results, and wrote most of the paper. HWY conducted experiments on the gene editing. SB and FD conducted experiments establishing iPS. OZH and CYC conducted experiments on hematopoietic differentiation. FY analyzed the whole exome sequencing data. SXF conceived the idea for the project and wrote the paper with NXH. Beta-thalassemia (β-Thal) is one of the most common genetic diseases in the world.

As a powerful technology for genome engineering, the CRISPR/Cas system has been successfully applied to modify the genomes of various species. The purpose of this study was to evaluate the technology and establish principles for the introduction of precise genetic modifications in early human embryos. 3PN zygotes were injected with Cas9 messenger RNA (mRNA) (100 ng/μl) and guide RNA (gRNA) (50 ng/μl).