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Everyone wants the best for their children, but sometimes biological miscues obstruct that hope. This is true for sickle-cell disease, a disorder in which red blood cells take on an abnormal shape — leading to pain, organ damage and shorter lives.
Optimized conditions for ribonucleoprotein delivery of Cas9–sgRNA complexes enables precise and efficient gene editing to restore fetal hemoglobin expression in sickle cell disease patient-derived HSCs
Sickle cell disease includes genetic conditions that are caused by mutations in one of the genes encoding haemoglobin. Mutant haemoglobin molecules can polymerize, causing the red blood cells to acquire a characteristic crescent shape that gives the disease its name.
A single therapeutic base edit of the BCL11A enhancer in human HSPCs can ameliorate cellular defects associated with sickle cell disease and β-thalassemia in vitro and efficiently induce fetal hemoglobin expression upon engraftment in mice in vivo.
A custom adenine base editor can edit the variant of the β-globin gene that causes sickle cell disease into a non-pathogenic variant in human and mouse cells, and transplantation of the edited cells rescues sickle cell disease in mice.