Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

Haematopoietic stem and progenitor cell (HSPC) gene therapy has emerged as an effective
treatment modality for monogenic disorders of the blood system such as primary …

Gene editing to disrupt the GATA1-binding site at the+ 58 BCL11A erythroid enhancer could
induce γ-globin expression, which is a promising therapeutic strategy to alleviate β …

Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe
monogenic diseases with severe and potentially life-threatening manifestations. BCL11A is …

Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Background Sickle cell disease is characterized by hemolytic anemia, pain, and progressive
organ damage. A high level of erythrocyte fetal hemoglobin (HbF) comprising α-and γ …

Background Exagamglogene autotemcel (exa-cel) is a nonviral cell therapy designed to
reactivate fetal hemoglobin synthesis through ex vivo clustered regularly interspaced short …

During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …

Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to
ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by …