Ice Bucket Challenge leads to New Gene Discovery

[impulse462]

A lot of people were doing that ice bucket challenge last year. Most people did it in great fun, but some were party poopers who complained about. Some positive results from the money that was donated however:

http://www.nytimes.com/2016/07/28/h...&gwh=720AD3D0F9BEC9B02509E54152267C37&gwt=pay

The latest development, announced by the association this week, falls into the research category: It’s the discovery of NEK1, which scientists say is among the most common genes that contribute to the disease and is associated with 3 percent of A.L.S. cases. The discovery, published in Nature Genetics, is the result of a global gene-sequencing effort involving 11 countries and 80 researchers, called Project MinE.

The challenge money allowed the association to invest $1 million in Project MinE, and “initiated the U.S. arm of this international effort,” Carrie Munk, a spokeswoman for the association, said.

The discovery of NEK1 is significant but is not a breakthrough — some 30 genes tied to the disease have already been identified — according to Brian Frederick, executive vice president for communications and development for the A.L.S. Association.

Mr. Frederick said that the discovery of the gene could eventually mean that “treatments won’t be limited to one subset of people with A.L.S., but that it might be a more broad group.”

It's interesting to note that not only a loss-of-function in NEK1 was associated with significant risk, but a point mutation in the gene leading to a single amino acid change (Arginine->Histidine) also was associated with significant risk.

Nature article is here: http://www.nature.com/articles/ng.3626.epdf?referrer_access_token=FGpNESGUKMW8S05mftmCD9RgN0jAjWel9jnR3ZoTv0PjhSvNia03_VF3rYLPfJnD6jxt-lWWKtfqBYv-4M0q9EekwROG2VUeDcvQDvsnFxswhCSH_kuNpjM1m31HgsEruvyKwr0_yoUnDmEy82jeKMC0_yNjuNTwfiO5UX5crg4=&tracking_referrer=www.bbc.com
[doublepost=1469663206][/doublepost]Also mods, I meant to post this in the "community discussion" if someone could move it that would be great.

 

[jkcerda]

A lot of people were doing that ice bucket challenge last year. Most people did it in great fun, but some were party poopers who complained about. Some positive results from the money that was donated however:

http://www.nytimes.com/2016/07/28/h...&gwh=720AD3D0F9BEC9B02509E54152267C37&gwt=pay



It's interesting to note that not only a loss-of-function in NEK1 was associated with significant risk, but a point mutation in the gene leading to a single amino acid change (Arginine->Histidine) also was associated with significant risk.

Nature article is here: http://www.nature.com/articles/ng.3626.epdf?referrer_access_token=FGpNESGUKMW8S05mftmCD9RgN0jAjWel9jnR3ZoTv0PjhSvNia03_VF3rYLPfJnD6jxt-lWWKtfqBYv-4M0q9EekwROG2VUeDcvQDvsnFxswhCSH_kuNpjM1m31HgsEruvyKwr0_yoUnDmEy82jeKMC0_yNjuNTwfiO5UX5crg4=&tracking_referrer=www.bbc.com
[doublepost=1469663206][/doublepost]Also mods, I meant to post this in the "community discussion" if someone could move it that would be great.

leave it here, glad they found a link.

 

[ibookg409]

A lot of people were doing that ice bucket challenge last year. Most people did it in great fun, but some were party poopers who complained about. Some positive results from the money that was donated however:

http://www.nytimes.com/2016/07/28/h...&gwh=720AD3D0F9BEC9B02509E54152267C37&gwt=pay



It's interesting to note that not only a loss-of-function in NEK1 was associated with significant risk, but a point mutation in the gene leading to a single amino acid change (Arginine->Histidine) also was associated with significant risk.

Nature article is here: http://www.nature.com/articles/ng.3626.epdf?referrer_access_token=FGpNESGUKMW8S05mftmCD9RgN0jAjWel9jnR3ZoTv0PjhSvNia03_VF3rYLPfJnD6jxt-lWWKtfqBYv-4M0q9EekwROG2VUeDcvQDvsnFxswhCSH_kuNpjM1m31HgsEruvyKwr0_yoUnDmEy82jeKMC0_yNjuNTwfiO5UX5crg4=&tracking_referrer=www.bbc.com
[doublepost=1469663206][/doublepost]Also mods, I meant to post this in the "community discussion" if someone could move it that would be great.

I was very critical of the ice bucket challenge. I am glad to admit that I was wrong.

 

[impulse462]

leave it here, glad they found a link.

It's one of many genes that are associated actually. At the end of the nature article they mention that it interacts with others and that more studies have to be done to see if NEK1 itself is causative or if other genes it interacts with are

 

[steve knight]

Plus it created a record low birth rate 9 months later.