Doctors hope the one-time treatment, which involves permanently altering DNA in blood cells with a tool called CRISPR, may treat and possibly cure sickle cell disease and beta thalassemia. Both diseases involve mutations in a gene for haemoglobin, the substance in red blood cells that carries oxygen throughout the body. In sickle cell, defective haemoglobin leads to deformed, crescent-shaped blood cells that do not carry oxygen well. The treatment involves removing stem cells from the patient’s blood, then using CRISPR in a lab to knock out the switching gene. Dr Williams, who was not involved in Dr Frangoul’s study, said it “validates this approach” of targeting the haemoglobin switching gene to tackle sickle cell.

Source: Irish Independent December 05, 2020 20:47 UTC