Last year I wrote a piece on Sickle Cell Disease (SCD) for World SCD Day. Now, I am writing about some exciting research progress in gene editing in blood disorders.
Scientists were treating different blood disorders, SCD and beta-thalassemia (another genetic condition that affects blood cells). They used CRISPR-Cas9 gene editing therapy (CTX001) in clinical trials and found that the treatment showed a “consistent and sustained positive response”.
How does CTX001 work? The therapy edits the patient’s stem cells that produce red blood cells (RBSs). The edited stem cells produce more fetal haemoglobin (HbF) in RBCs. As the name suggests, HbF is made during fetal development, and after the baby is born, the HBF gene is switched off. By increasing HbF in patients with SCD and beta-thalassemia, the effects of the blood disorder are lessened.
Why is HbF important? SCD and beta-thalassemia are both caused by mutations in the beta-globin gene (HBB). The type of mutation results in different conditions, but the mutation affects the beta-globin part of haemoglobin. Therefore, the haemoglobin does not work as it should and leads to health complications. So, if there is more HbF being produced, it can compensate for the ineffective haemoglobin, and the symptoms of the disease are less severe.
This is really exciting because there is no cure for SCD or thalassemia, so research like this is important and is a massive step towards finding a cure!
#genetics #genetherapy #geneediting #CRISPR #biotechnology #science #geneticcounseling #humangenetics #medicalgenetics #healthcare #sicklecell #thalassemia
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