CRISPR-Cas9 BCL11A enhancer

CRISPR-Cas9 BCL11A enhancer refers to a class of ex vivo gene-edited autologous cell therapies designed to treat hemoglobinopathies such as sickle cell disease (SCD) and transfusion-dependent beta-thalassemia (TDT). This therapeutic approach utilizes CRISPR-Cas9 technology to specifically disrupt the erythroid-specific enhancer region (typically the +58 kb site) of the BCL11A gene in a patient's own CD34+ hematopoietic stem and progenitor cells (HSPCs). BCL11A is a transcriptional repressor that normally silences the production of fetal hemoglobin (HbF) after birth. By disrupting this enhancer, BCL11A expression is downregulated specifically in the erythroid lineage, which de-represses the γ-globin gene and leads to elevated levels of HbF. These edited cells are then re-infused into the patient, where they produce red blood cells containing high levels of HbF, thereby compensating for defective adult hemoglobin and reducing clinical symptoms. The most prominent approved drug in this category is exagamglogene autotemcel (Casgevy).

Other names

BCL11A enhancer-targeted CRISPR-Cas9 gene editingBCL-11A enhancer-targeted CRISPR-Cas9 gene editingBCL 11A enhancer-targeted CRISPR-Cas9 gene editingCRISPR-Cas9-mediated BCL11A enhancer disruptionCRISPR-Cas-9-mediated BCL11A enhancer disruptionCRISPR-Cas 9-mediated BCL11A enhancer disruptionBCL11A erythroid-specific enhancer disruptionBCL-11A erythroid-specific enhancer disruptionBCL 11A erythroid-specific enhancer disruption