Safety and efficacy of perinatal gene therapy for Neuronopathic Gaucher disease

高谢病是一种遗传性疾病，其严重形式会导致严重的脑损伤，婴儿在两岁前死亡。目前可用的药物无法治愈这种疾病，因为它们不能进入大脑的神经。基因疗法已经被用来治愈几种遗传病，最近，将基因输送到大脑已经成为可能。基于最近的这一发现，我们正试图使用基因疗法治愈人类大脑疾病的小鼠模型。我们将把这种基因注射到胎儿和新生小鼠的血液中，看看这是否可以防止脑部疾病的发生。如果这种方法奏效，它可能会提供一条治疗人类的途径；至少，我们将更多地了解这种疾病为什么会损害婴儿的大脑。

Gaucher disease is a genetic disease which, in its severe form, results in serious brain damage infant death before two years of age. The disease is incurable with currently-available drugs since they can?t enter the nerves in the brain. Gene therapy has already been used to cure several genetic diseases and, very recently, it has become possible to deliver genes to the brain. Based on this recent finding, we are trying to cure a mouse model of the human brain disease using gene therapy. We will be injecting the gene into bloodstream of fetal and neonatal mice to see if this prevents the onset of brain disease. If this works it may provide a pathway towards treating human beings; at the very least we will learn more about why the disease damages the brain in infants.