Silencing silencers to boost foetal globin production and treat β-haemoglobinopathies

遗传性疾病β-地中海贫血症和镰状细胞性贫血是由成人珠蛋白基因突变引起的。幸运的是，人类有第二个珠蛋白基因，即胎儿γ-珠蛋白基因，该基因在子宫中表达，但在出生后关闭。重新激活这种胎儿珠蛋白基因的表达可以缓解β地中海贫血症和镰状细胞性贫血的症状。我们正在使用尖端的基因编辑技术来探索提高受影响个体的胎儿珠蛋白表达的策略。

The genetic disorders β-thalassaemia and sickle cell anaemia are caused by mutations in the adult globin gene. Fortunately, humans have a second globin gene, the foetal γ-globin gene, which is expressed in utero but turned off after birth. Re-activating expression of this foetal globin gene can alleviate the symptoms of β-thalassaemia and sickle cell anaemia. We are using cutting edge gene editing technology to explore strategies for boosting foetal globin expression in affected individuals.