基因编辑治疗遗传疾病（基因治疗Leber遗传性视神经病变取得成功）

来源于The Economist August 27th 2022 Leaders “Briefing Genetic medicine --- The trials of gene therapy” 这篇文章的首、二、三段。

The Economist August 27th 2022 Leaders

In 2018, when he was 13, Ethan Ralston’s eyesight started to get blurry. The diagnosis was devastating. He had been born with Leber Hereditary Optic Neuropathy (LHON), a rare genetic disorder that eats away at the cells of the optic nerve until it causes blindness.

2018年，伊森·拉尔斯顿(Ethan Ralston)13岁，他的视力开始变得模糊。诊断结果是毁灭性的。他出生时就患有Leber遗传性视神经病变(LHON)，这是一种罕见的的遗传性疾病，该病会损害视神经细胞，直至导致失明。

Given that America and Europe between them see just 800 cases of LHON a year young Mr Ralston was very unlucky. In another way, though, he could be counted fortunate. GenSight, a French biotech company, had for years been working on a gene therapy for LHON. The condition is caused by a mutation in a gene called ND4 which causes the body's cells to make a faulty protein. The therapy, called Lumevoq, sought to resolve the problem by adding the canonical version of ND4 to cells in the retina and optic nerve. By 2018 Lumevoq was in clinical trials. Shortly after his diagnosis Mr Ralston was treated with it.

鉴于美国和欧洲每年仅有800例LHON患者，年轻的拉尔斯顿非常不走运。不过，从另一个角度来看，他也算是幸运的。法国生物技术公司GenSight多年来一直致力于LHON的基因治疗。LHON是由一个叫做ND4的基因突变引起，该基因突变导致身体的细胞产生一种有缺陷的蛋白质。这种名为Lumevoq的疗法试图通过向视网膜和视神经的细胞添加ND4的标准版本来解决这个问题。到2018年，Lumevoq已进入临床试验阶段。确诊后不久，拉尔斯顿就接受了这种治疗。

Today his eyesight has almost returned to normal. He can work on a computer, drive a car, go bowling with his friends. He would seem to be cured.

如今，他的视力几乎恢复了正常。他可以在电脑上工作、开车、和朋友一起去打保龄球。他似乎已痊愈了。

note:

Leber遗传性视神经病变是眼科比较少见的一类先天性疾病，为视神经退行性变的母系遗传性疾病。男性患者居多，常于15～35岁发病，临床主要表现为双眼同时或先后急性或亚急性无痛性视力减退，同时可伴有中心视野缺失及色觉障碍。视力损害严重程度差异较大，可由完全正常、轻度、中度到重度。

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