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“冰桶挑战基金”发现运动神经元病的基因

(2016-07-28 09:14:36)
标签:

运动神经元病mnd

als

冰桶挑战基金

发现基因

《自然遗传学》

分类: 科学阳光

本文转载自BBC网站 27 July 2016 Health

Ice Bucket Challenge funds gene discovery in ALS (MND) research

冰桶挑战基金发现肌萎缩厕所硬化(运动神经元病)的基因

 

“冰桶挑战基金”发现运动神经元病的基因
 
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.

Scientists have identified a new gene contributing to the disease, NEK1.
The Ice Bucket Challenge has raised $115m (£87.7m) 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.

“冰桶挑战基金”发现运动神经元病的基因

“冰桶挑战基金”发现运动神经元病的基因

Research by Project MinE, published in Nature Genetics, is the largest-ever study of inherited ALS, also known as motor neurone disease (MND).
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.

“冰桶挑战基金”发现运动神经元病的基因

Social media was awash with videos of people pouring cold water over their heads to raise money for ALS in the summer of 2014.
More than 17 million people uploaded videos to Facebook, including many celebrities who rose to the challenge, which were then watched by 440 million people worldwide.
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What is amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND)?
什么是肌萎缩厕所硬化(ALS),也称为运动神经元病(MND)?
. fatal, rapidly progressive disease that affects the brain and spinal cord
. attacks nerves that control movement so muscles refuse to work (sensory nerves are not usually affected)
. can leave people locked in a failing body, unable to move, talk and eventually, breathe
. affects people from all communities
. scientist Stephen Hawking is best-known person with the disease
. 科学家史蒂芬.霍金是患运动神经元病的最知名人士。
. kills around a third of people within a year of diagnosis and more than half within two years
. there is no cure

本文转载自BBC网站  07-27-2016    稍后...再配中文译文

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