2023年01月30日 VOA慢速英语：基因疗法直接对大脑进行治疗

 

When Rylae-Ann Poulin was 1 year old, she did not crawl or make noises like other kids her age. A rare genetic disease prevented her from even lifting her head. Her parents took turns holding her all night to ease her breathing and help her sleep peacefully.
当 Rylae-Ann Poulin 1 岁时，她不像其他同龄孩子那样爬行或发出声音。一种罕见的遗传病使她连头都抬不起来。她的父母轮流抱着她整夜，以减轻她的呼吸，帮助她安然入睡。
 
But months later, doctors in Taiwan treated the young patient's brain directly, attacking the disease with genetic medicine. Now the 4-year-old is walking, running, swimming, reading and riding horses.
但几个月后，台湾的医生直接治疗了这位年轻患者的大脑，用基因药物治疗了疾病。现在 4 岁的孩子会走路、跑步、游泳、阅读和骑马。
 
Rylae-Ann lives with her family in Bangkok, Thailand. She was accepted into a medical trial for a new method of gene therapy. Experts say the treatment holds great promise for treating several brain diseases.
Rylae-Ann 和她的家人住在泰国曼谷。她被接受参加一项新的基因治疗方法的医学试验。专家表示，该疗法对治疗多种脑部疾病具有广阔前景。
 
The method was approved in Europe and the United Kingdom for a condition called AADC deficiency. The disorder damages communication systems among nervous system cells.
该方法在欧洲和英国被批准用于称为 AADC缺陷的病症。这种疾病会破坏神经系统细胞之间的通讯系统。
 
American drug company PTC Therapeutics plans to seek U.S. approval for the treatment this year.
美国制药公司 PTC Therapeutics 计划今年寻求美国批准该疗法。
 
The National Institutes of Health (NIH) says there are about 30 studies underway in the United States right now to test gene therapy to the brain. The studies target a number of diseases.
美国国立卫生研究院 (NIH) 表示，美国目前正在进行大约 30 项研究，以测试对大脑的基因治疗。这些研究针对多种疾病。
 
Dr. Krystof Bankiewicz at Ohio State University leads one such study on AADC deficiency. Others test treatments for brain diseases like Alzheimer's, Parkinson's and Huntington's.
俄亥俄州立大学的 Krystof Bankiewicz 博士领导了一项关于 AADC 缺陷的此类研究。其他人正在测试治疗阿尔茨海默氏症、帕金森氏症和亨廷顿氏症等脑部疾病的方法。
 
Difficulties remain, especially with diseases caused by more than a single gene. But scientists say evidence is growing in support of gene therapy to the brain.
困难依然存在，尤其是对于由不止一个基因引起的疾病。但科学家表示，越来越多的证据支持对大脑进行基因治疗。
 
"There's a lot of exciting times ahead of us," said Bankiewicz, a brain surgeon. "We're seeing some breakthroughs."
“我们面前有很多激动人心的时刻，”脑外科医生 Bankiewicz 说。“我们看到了一些突破。”
 
The most amazing of those breakthroughs involve Rylae-Ann's disease. It is caused by changes in a gene needed for an enzyme that helps make neurotransmitters, the body's chemical messengers. The one-time treatment provides a working version of the gene.
这些突破中最令人惊奇的是 Rylae-Ann 病。它是由一种酶所需的基因发生变化引起的，这种酶有助于制造神经递质，即人体的化学信使。一次性治疗提供了该基因的工作版本。
 
At around 3 months old, Rylae-Ann began having what her parents thought were seizures. Fluid sometimes got into her lungs after she ate, a condition that required hospital treatment. Doctors thought she might have epilepsy or cerebral palsy, more common brain diseases.
大约 3 个月大时，莱莱安开始出现她父母认为是癫痫发作的症状。进食后，液体有时会进入她的肺部，这种情况需要住院治疗。医生认为她可能患有癫痫或脑瘫等更常见的脑部疾病。
 
Later, her parents found a doctor who correctly identified Rylae-Ann's condition. Her parents entered her into a gene therapy trial in Taiwan. The treatment requires doctors to operate directly on the brain. The doctors injected the genetic material using an extremely narrow tube.
后来，她的父母找到了一位医生，该医生正确地确定了莱莱-安的病情。她的父母让她在台湾参加基因治疗试验。这种治疗需要医生直接对大脑进行手术。医生们用一根极窄的管子注射了遗传物质。
 
"It gets put into the brain cells and then the brain cells make the (neurotransmitter) dopamine," said Stuart Peltz, leader of PTC Therapeutics.
PTC Therapeutics 的负责人 Stuart Peltz 说：“它被放入脑细胞，然后脑细胞产生（神经递质）多巴胺。”
 
Company officials said all patients in their trials showed movement and thinking improvements. Some of them, Peltz said, could stand and walk and continue getting better over time.
公司官员说，在他们的试验中，所有患者都表现出运动和思维的 改善。佩尔茨说，他们中的一些人可以站立和行走，并且随着时间的推移会继续好转。
 
Bankiewicz of Ohio State University also reported success in his NIH-financed study. He said all 40 or so patients involved saw big improvements.
俄亥俄州立大学的 Bankiewicz 也报告了他在 NIH 资助的研究中取得的成功。他说所有 40 名左右的患者都看到了很大的改善。
 
Barriers to widespread use
广泛使用的障碍
 
Scientists say there are difficulties to face before this treatment becomes common for more brain diseases.
科学家们说，在这种治疗对更多脑部疾病变得普遍之前，还需要面对一些困难。
 
For example, the timing of treatment is an issue. Generally, earlier in life is better because diseases can cause more problems over the years. Also, more complex disorders like Alzheimer's are harder to treat with gene therapy.
例如，治疗的时机是一个问题。一般来说，越早越好，因为多年来疾病会导致更多问题。此外，更复杂的疾病如阿尔茨海默氏症更难用基因疗法治疗。
 
A more basic barrier is cost. The price of gene therapies, paid for mostly by insurers and governments, can be in the millions. The one-time PTC therapy costs more than $3 million in Europe, for example.
一个更基本的障碍是成本。主要由保险公司和政府支付的基因疗法的价格可能高达数百万。例如，一次性 PTC 治疗在欧洲花费超过 300 万美元。
 
But drugmakers say they want people to get the treatments they need. And researchers are hopeful they can clear the remaining scientific barriers to this method.
但制药商表示，他们希望人们获得所需的治疗。研究人员希望他们能够清除这种方法剩余的科学障碍。
 
"So I would say gene therapy can be leveraged for many sorts of brain diseases and disorders," said Ryan Gilbert. He is a biomedical engineer at New York's Rensselaer Polytechnic Institute. "In the future, you're going to see more technology doing these kinds of things," he added.
“所以我想说基因疗法可以用于多种脑部疾病和失调，”Ryan Gilbert 说。他是纽约伦斯勒理工学院的生物医学工程师。“在未来，你会看到更多的技术在做这些事情，”他补充道。