Editing beneficial single nucleotide polymorphisms into the genome: A new approach to genetic disease

点击翻译按钮获取中文摘要

β-thalassaemia and sickle cell anaemia are red blood cell diseases caused by deficiencies in adult β-globin, a component of oxygen-carrying haemoglobin. Interestingly there is a rare group of patients whose symptoms are reduced by naturally occurring mutations that upregulate another globin gene to compensate for defective β-globin. We are investigating how these beneficial mutations elevate globin levels with a view to engineering them into cells of affected patients to treat these disorders.