English Story

冰桶挑战帮助研究发现渐冻症致病基因

The Ice Bucket Challenge that went viral in 2014 has funded an important scientific gene discovery in the progressive neurodegenerative disease ALS, the ALS Association says.
 
美国渐冻症协会表示,2014年风行的冰桶挑战募集了大量资金,已经帮助科学研究发现了与渐冻症相关的重要基因。渐冻症是渐进性神经退行性疾病,学名为肌萎缩侧索硬化症(ALS)。
 
Scientists have identified a new gene contributing to the disease, NEK1.
 
The Ice Bucket Challenge has raised $115m from people pouring cold water over themselves and posting the video on social media.
 
It was criticised as a stunt, but has funded six research projects.
 
More than 80 researchers in 11 countries searched for ALS risk genes in families affected by the disease.
 
"The sophisticated gene analysis that led to this finding was only possible because of the large number of ALS samples available," Lucie Bruijn of the ALS Association says.
 
The identification of gene NEK1 means scientists can now develop a gene therapy treating it.
 
Although only 10% of ALS patients have the inherited form, researchers believe that genetics contribute to a much larger percentage of cases.