N Engl J Med: First time! CRISPR-Cas9 technology can effectively treat sickle cell anemia and β-thalassemia in human trials

Sickle-type red blood cell anemia (SCD) and β-thalassemia (TDT) are two common genetic defects characterized by one or more synthetic reductions or non-synthesis of globin peptide chains in hemoglobin due to defects in the globin gene, resulting in ineffective hemoglobin.
The most common treatment at present is blood transfusion (input red blood cells) or input iron chelating agent, but prone to poisoning, and can not fundamentally treat the disease, and the only cure - hematopoietic stem cell transplantation, but there is a shortage of matching donors, and post-transplant complications may occur at any time."
these conditions, gene therapy, which corrects the expression of therapeutic genes at the molecular level, has become a new direction for SCD and TDT therapy.
December 5, 2020, researchers at the Sarsh Cannon Institute, Boston University School of Medicine, and others published an article in NEJM entitled "CRISPR-Cas Gene9 Editing for Sickle Cell Disease and β-Thalassemia", which showed that using CRISPR-Cas9 technology to edit the body CD34 plus cells, increase fetal hemoglobin expression, and effectively treat TDT and SCD.
fetal hemoglobin is made up of α-globin and γ-globin, which decrease after birth with the production of β-beethoprotein and γ anthropoprotein.
study found that BCL11A is a γ expression of red blood cells and globulin.
, the BCL11A expression is reduced to activate γ-bead protein, which increases hemoglobin content.
experimenters used CPRSPR-Cas9 technology to edit the self-contained CD34 plus cells, specifically targeting the silent BCL11A gene and reactivate fetal hemoglobin production.
, of the Sarah Cannon Institute, said: "What we're doing is turning off the switch and getting the cells to think they're back in the womb and recreating fetal hemoglobin.
" in evaluating 10 healthy donor gene-edited CD34 plus cells, the researchers found that fetal hemoglobin levels rose to 29±10.8 percent, compared with 10.5±5.2 percent for unedited cells. In
clinical trials, the researchers selected a 19-year-old TDT female patient and a 33-year-old SCD female patient to return gene-edited self-edited HD34 plus cells, and within 12 months the patient's bone marrow and blood allied gene editing efficiency remained high, and more than 99% of hemoglobin was expressed in blood circulation.
both patients are no longer required for blood transfusion treatment.
precisely targeted gene therapy with CRISPR-Cas9 technology, providing the possibility for a successful cure for future genetic defects.
, of course, CRISPR-Cas9 technology is only just beginning to be used in the field of disease.
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