2026年4月4日 16:27 美国东部时间 / 哥伦比亚广播公司新闻
作者：乔恩·拉普克 首席医学通讯员
乔恩·拉普克医学博士是哥伦比亚广播公司新闻屡获殊荣的首席医学通讯员。自2006年加入哥伦比亚广播公司新闻以来，拉普克已发表超过1200篇报道，涵盖健康与医疗领域的众多突发新闻和热点事件，以及关于音乐、生活方式和娱乐明星人物专访的专题报道。
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更新时间：2026年4月4日 / 下午4:33 美国东部时间 / 哥伦比亚广播公司新闻
杰夫·维耶斯特拉的母亲和两个姐妹都死于肌萎缩侧索硬化（ALS，又称 amyotrophic lateral sclerosis）并发症，而这位科学家兼滑雪爱好者希望通过一项实验性疗法以及已知首例预防这种神经退行性疾病的尝试，挽救自己的生命。
维耶斯特拉的母亲去世时，他年仅两岁。他母亲的所有兄弟姐妹也都在三十多岁、四十出头时死于ALS。
这位41岁的男子告诉哥伦比亚广播公司新闻，他不怕从智利海岸的冰山滑下滑雪，也不怕在不列颠哥伦比亚省上空跳伞——但家族病史让他感到恐惧。维耶斯特拉和他的姐妹艾琳、莉都被检测出携带一种名为“FUS”的基因突变，该基因对正常细胞功能至关重要，尤其是神经细胞。这种突变使他们很可能会患上ALS。
杰夫、艾琳和莉。 杰夫·维耶斯特拉 摄
“头顶一直笼罩着这样的阴云，在精神和情感上都非常难熬，”维耶斯特拉说道。
研究显示，所有ALS患者中约有10%至15%患有遗传性该病。哥伦比亚大学研究遗传性ALS的神经学家尼尔·施奈德博士指出，其中约三分之二的遗传性病例属于家族性ALS，意味着家族多代都受到影响。
根据美国疾病控制与预防中心的数据，美国约有3.5万人患有ALS，又称卢伽雷氏症。ALS会导致运动神经元进行性变性，而运动神经元是控制肌肉运动的神经细胞。随着病情发展，患者会逐渐丧失行走、说话的能力，最终无法自主呼吸。
目前尚无治愈方法，但全球各地的研究人员都在研发新的治疗方案。其中包括哥伦比亚大学埃莉诺与卢·伽里格ALS中心针对一种罕见遗传性ALS病例开创的实验性疗法。
维耶斯特拉的两位姐妹都出现了ALS症状，并参与了哥伦比亚大学的一项临床试验，该试验针对突变基因研发实验性疗法。主导该试验的施奈德博士也对维耶斯特拉进行了检查，发现其肌电图（EMG，用于检测肌肉电信号）存在异常。
“那是一个艰难的时刻，”施奈德博士说道。“我们当时认为这意味着这是疾病发作的早期信号，他有发展为全面性疾病的风险。”
施奈德博士为维耶斯特拉提供了与他姐妹相同的实验性疗法，以期预防ALS。维耶斯特拉希望主动出击，他说：“我立刻抓住了这个机会。”
在过去三年里，维耶斯特拉每隔几个月就要接受一次脊柱注射，靶向并抑制该突变基因。虽然他的两位姐妹最终都因ALS并发症去世，但维耶斯特拉表示，他认为这种疗法“延长了她们的生命”。
杰夫正在接受ALS实验性治疗。 哥伦比亚广播公司新闻 摄
一年后，此前在肌肉检测中发现的轻微异常恢复正常。
维耶斯特拉尚未出现ALS症状，且比许多家族成员都活得更久。施奈德博士认为这项研究“意义重大”，并补充道：“我认为我们真正拥有了希望和机会，将这种疾病变成一种可控的病症，而非致命疾病。”
维耶斯特拉依旧以科学家身份工作，同时坚持滑雪、徒步旅行和环游世界，他表示自己感觉像是获得了第二次生命。
“也许这种疗法确实对我有效，我现在可以开始展望未来了，而如果没有这项治疗，我根本无法做到这一点，”维耶斯特拉说道。
施奈德博士希望，从家族性ALS研究中获得的见解最终能帮助非家族性ALS患者。他和哥伦比亚大学ALS中心正致力于将研究范围从FUS相关性ALS拓展出去。若想咨询参与“沉默ALS”项目的可能性——该项目旨在为其他罕见遗传性ALS患者开发个性化基因疗法，请发送邮件至silenceals@cumc.columbia.edu。
Scientist whose mother and sisters died of ALS complications hopes experimental treatment will save his life
2026-04-04 16:27 EDT / CBS News
By Jon LaPook Chief Medical Correspondent
Jon LaPook, M.D. is the award-winning chief medical correspondent for CBS News. Since joining CBS News in 2006, LaPook has delivered more than 1,200 reports on a wide variety of breaking news and trending stories in the health and medical fields, as well as feature stories on music, lifestyle and profiles of entertainment stars.
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Updated on: April 4, 2026 / 4:33 PM EDT / CBS News
Jeff Vierstra’s mother and two sisters all died following complications from ALS, or Amyotrophic Lateral Sclerosis, but the scientist and skier is hoping an experimental treatment and the first known attempt to prevent the neurodegenerative disease can help save his life.
Vierstra was only two years old when his mother died. All her siblings also died of ALS in their late thirties and early forties.
The 41-year-old tells CBS News he isn’t afraid to ski down an iceberg off the coast of Chile or skydive over British Columbia — what does frighten him is his family history. Vierstra and his sisters, Erin and Leigh, all tested positive for a mutation of a gene called “FUS” that is crucial for normal cell function, especially nerve cells. The mutation made it likely they would develop ALS.
Jeff, Erin, and Leigh. Jeff Vierstra
“Living with that sort of like cloud over you is like mentally and emotionally like really difficult,” Vierstra said.
About 10 to 15% of all patients with ALS have a genetic form of the disease, research shows. About two-thirds of those genetic forms are familial, meaning multiple generations of the family have been affected, according to Dr. Neil Shneider, a Columbia University neurologist who studies genetic forms of ALS.
An estimated 35,000 people in the United States are living with ALS, also known as Lou Gehrig’s disease, according to the Centers for Disease Control and Prevention. ALS causes progressive degeneration of motor neurons, the nerve cells that control the movement of muscles. Over time, a patient loses the ability to walk, talk and, eventually, to breathe.
Right now, there is no cure, but researchers around the world are working on new treatments. That includes an experimental approach being pioneered at the Eleanor and Lou Gehrig ALS Center at Columbia University for a rare genetic form of the disease.
Both of Vierstra’s sisters began developing symptoms of ALS and they took part in a clinical trial at Columbia University for an experimental treatment targeting the mutated gene. Dr. Shneider, the neurologist leading the trial, also examined Vierstra and found abnormalities on EMG (electromyography), which examines electrical signals in muscles.
“It was a difficult moment,” said Dr. Shneider. “We thought this meant that this was an early sign of disease onset and that he was at risk for developing full blown disease.”
Dr. Shneider offered Vierstra the same experimental treatment given to his sisters in an attempt to prevent ALS. Vierstra wanted to be proactive, and said, “I jumped at the opportunity to do that.”
Every few months for the past three years, Vierstra has been receiving infusions in his spine that target and disable the mutated gene. While both of his sisters eventually developed complications of ALS and died, Vierstra said he felt the treatment “extended their life.”
Jeff during his experimental ALS treatment. CBS News
After one year, the previous mild abnormalities seen on his muscle testing had normalized.
Vierstra has not developed ALS and is outliving many of his family members. Dr. Shneider believes the research is “a very big deal,” and added, “I think there’s real hope and opportunity to make this a liveable disease, one that isn’t fatal.”
As Vierstra continues to work as a scientist as well as ski, hike and travel the world, he says he feels like he’s getting another lease of life.
“And maybe this actually is working for me and I can start thinking about the future, and I otherwise couldn’t have,” Vierstra said.
Dr. Shneider hopes the insight learned from research on familial forms of ALS will eventually help people with non-familial forms. He and the ALS Center at Columbia University are working to extend their research beyond FUS-ALS.To inquire about possible participation in Silence ALS, an initiative to develop individualized gene-based therapies for patients with other rare genetic forms of ALS, contact silenceals@cumc.columbia.edu.
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