In vivo gene transfer and phenotype correction of normal and urea-cycle deficient primary human hepatocytes in chimeric mouse-human livers: Towards gene therapy for metabolic liver disease

遗传性肝病造成重大的健康和经济负担。现有的医疗手段往往不足，往往需要进行肝移植，这本身就有局限性和风险。使用基因治疗方法，我们已经实现了对患有otc缺乏症的小鼠的终身治愈，这种疾病在受影响的婴儿中具有很高的残疾和死亡风险。这项应用的重点是将小鼠的成功转化为人类治疗。

Genetic liver disease imposes a major health and economic burden. Existing medical treatments are frequently inadequate, often necessitating liver transplantation which carries its own limitations and risks. Using a gene therapy approach we have achieved life-long cure of mice with OTC-deficiency, a condition with a high risk of disability and death in affected infants. This application focuses on translating this success in mice through to human therapy.