Researchers have optimized CRISPR-Cas9 technology, a gene editing approach revolutionizing medical research, to achieve therapeutic editing of the blood stem cell population. The improvements, which includes better efficiency, delivery, and targeting of the edits, hold promise as a treatment for sickle cell disease.
The study showed that making a cut in the DNA where the BCL11A gene is enhanced can diminish BCL11A protein activity and stimulate fetal hemoglobin in blood stem cells. Stimulating fetal hemoglobin has been a long-standing therapeutic strategy to treat sickle cell disease because it can resist sickling and reduce the severity of the disease.
Researchers validated the strategy in mice and blood stem cells from several patients with beta-thalassemia. The study, partly funded by NHLBI, appeared in Nature Medicine.