Ice Bucket Challenge funds ALS Breakthrough
July 27, 2016 9:38 AM   Subscribe

Want some good news for terrible times? It seems the Ice Bucket Challenge viral fundraiser for ALS research has yielded identification of a common gene amongst 15,000 ALS patients. It's still early days for this research, but it's progress: progress funded as the result of a viral phenomenon.
posted by hippybear (27 comments total) 20 users marked this as a favorite
 


I have to say: I did not expect such a beneficial outcome! Usually, I don't much care for viral challenges to raise awareness about disease, etc because it always seems nothing much changes or happens after their popularity is passed. I am pleased to see otherwise.
posted by Kitteh at 9:59 AM on July 27, 2016 [3 favorites]


This is great for humanity, and also good for me the next time my dad starts grumbling his way into a "what is social media good for arglebargle" type rant.
posted by a fiendish thingy at 10:13 AM on July 27, 2016 [1 favorite]


I came in to say exactly what Kitteh said. I've never been so happy to see my curmudgeonly grumbling proven wrong.
posted by town of cats at 10:19 AM on July 27, 2016 [12 favorites]


Part of what was different (and I liked) about the Ice Bucket Challenge (compared to other "slacktivist" and "awareness" viral things) was that just about every version of it I saw had something about how the point was to donate, not make funny videos with ice.

I'm not going to go on an archaeological mission to figure out which celebrity did it first, but a number of videos on my facebook feed at the time involved a person writing a check while drinking, say, an iced beverage instead of actual ice bucket shenanigans.

My concern at the time was whether or not the ALS Association was going to suffer from some kind of a resource curse by being inundated with donations but not having a good infrastructure to put them to use. If this research is really something that would not have been funded but for the extra money from the Ice Bucket Challenge, then it appears my concerns were also allayed.
posted by sparklemotion at 10:30 AM on July 27, 2016 [2 favorites]


just about every version of it I saw had something about how the point was to donate, not make funny videos with ice.

Really? I got unfollowed / blocked on twitter by at least 5 people who were doing IBC videos who didn't even mention ALS or donating money to the cause at all, and who took GREAT OFFENSE at me mentioning in the comment stream about their video that they missed the point of what all those shenanigans were about.

My concern at the time was whether or not the ALS Association was going to suffer from some kind of a resource curse by being inundated with donations but not having a good infrastructure to put them to use.

That was a widely-voiced concern about the sudden burst of funding heading toward the ALSA. It appears that they, also, were listening to this concern and managed to put some measures in place for directing the funds toward worthwhile efforts.
posted by hippybear at 10:35 AM on July 27, 2016 [3 favorites]


My mother died from ALS. Her initials were NEK, just like the gene. That is weird.

What is also weird is that they never asked for a DNA or tissue sample from her. Could someone who's more familiar with medical research tell me why that's not a routine thing?
posted by clawsoon at 10:36 AM on July 27, 2016 [1 favorite]


So am I crazy, or wasn't the challenge to either dump ice water on your head or donate money to charity? Isn't people choosing to dump ice water on themselves an explicit rejection of giving to charity?
posted by Sangermaine at 10:38 AM on July 27, 2016 [2 favorites]


Could someone who's more familiar with medical research tell me why that's not a routine thing?

I'm going to take an outsider's guess here and say, up until summer 2014... funding.
posted by hippybear at 10:39 AM on July 27, 2016 [1 favorite]


Sangermaine, it varied. Some people had a version where the dump was in place of a donation, others had the dump go with a reduced donation, others did both the dump and a full donation. From what I can tell, the main thing that was a constant with the dump is that doing it let you challenge others to it.
posted by Four Ds at 10:48 AM on July 27, 2016 [2 favorites]


You would think there would be a coordinated, well-funded effort to look into the origins of every rare or orphan disease. You would be wrong.
posted by Soliloquy at 10:48 AM on July 27, 2016


The Guardian article states "The newly discovered gene, NEK1, is only associated with 3% of ALS cases", which seems very different from "a common gene amongst 15,000 ALS patients." The ALSA release says the gene is "over-represented" among ALS patients.
So just how big a breakthrough is this? Can any knowledgeable mefites shed some light on the significance of this find?
posted by rocket88 at 11:09 AM on July 27, 2016


I carefully worded it to NOT say "a common gene across 15,00 ALS patients". I know reporting of SCIENCE! can go wrong.

But an overrepresented gene that is statistically significant is one step further than we knew about ALS before this report.

ALS is likely caused by several factors. This is just a keyhole to a doorway, or a chink in a window, that will allow further research to make more progress. It's more progress than has been made since research has started, as far as I understand.
posted by hippybear at 11:14 AM on July 27, 2016 [2 favorites]


I think efforts like the ice bucket challenge and other private giving initiatives to fund research into diseases are a great thing. Oftentimes these small funding sources give life to truly paradigm shifting research, because the idea addressed is too "out there" for NIH funding. And the $100M total is extraordinary for such efforts, and for a disease that receives little funding from the government and little investment by pharma.

That said, this seems like a pretty minor finding and one that results from a common research approach that finds lots of genes like this one, most of which end up being meh. This is me dumping ice water on the thread, kinda like my own ice bucket challenge.

My more optimistic side says that although this might be a minor finding, it is one where any findings are in short supply and it is early. It is too soon to tell what other results will come from this research fund. I am hopeful that we will see many more stories like this in the coming years. Research takes time, folks.
posted by Mental Wimp at 11:15 AM on July 27, 2016 [3 favorites]


Sangermaine: That was how I interpreted the challenge, too. I have a friend who was a poor student at the time and chose to the ice bucket challenge, who challenged me. I am a wimp, so I chose to write a check instead (though not to ALS, but for a different organization, and on top of my already planned giving for the year). So I think it worked as intended.
posted by ethidda at 11:26 AM on July 27, 2016


"So just how big a breakthrough is this?"

It could be big or it could be just a drop in the bucket.

(I'm so sorry.)
posted by I-baLL at 11:35 AM on July 27, 2016 [2 favorites]


HealthNewsReview sees problems with the "breakthrough" label:

By all accounts, this is important basic research that may one day form the underpinnings of an effective therapy. But then again it might not — and if past experience is any guide it probably won’t. And so we must step back for a moment and examine how this research is being framed and how that framing affects public perceptions and, ultimately, policy towards research funding.

It took us mere moments to find two experts who — after taking a closer look at the actual study results — emphatically denounced the use of “breakthrough” to describe the findings and suggested that readers were likely to be misled.


From: Ice Bucket Challenge “breakthrough”? Experts pour cold water on superficial reporting
posted by Snerd at 12:09 PM on July 27, 2016 [2 favorites]


I'm very excited about it. The ALS in my family was not genetic (my grandfather died of ALS in 1988, and was believe to have contracted it through the military), but this is a great step forward against the worst disease.
posted by roomthreeseventeen at 12:19 PM on July 27, 2016


Metafilter: "[...] pour cold water on superficial reporting"
posted by DigDoug at 12:21 PM on July 27, 2016 [1 favorite]


Breakthrough or not this is good for me to hear. I was a huge crank about the Ice Bucket Challenge silliness when there's science to be done dammit, and I'm very happy to be proven wrong by the amount raised and the fact that it went to good research efforts. Even if the findings yield nothing, it's another step forward because ruling out a thing is part of science.
posted by Clinging to the Wreckage at 2:05 PM on July 27, 2016


ALS is likely caused by several factors. This is just a keyhole to a doorway, or a chink in a window, that will allow further research to make more progress. It's more progress than has been made since research has started, as far as I understand.

It is caused by several factors, for sure, and I think we don't have much of an idea of how those factors may interconnect. The framing of this discovery confused me initially, since we already know that mutations in one of the human superoxide dismutase enzymes (SOD1) are involved in many inherited cases of ALS (though the cause for most cases is still unknown). But it sounds like NEK1 may be present in a fair number of non-inherited cases, which - as far as I know - we have had less of a handle on. Interestingly, it has a pretty different set of roles in the cell from SOD1; I would be curious to hear more about whether they might be connected by any pathways (and I tend to assume that that'll be a direction of future research.)
posted by ubersturm at 3:12 PM on July 27, 2016


What is also weird is that they never asked for a DNA or tissue sample from her. Could someone who's more familiar with medical research tell me why that's not a routine thing?

Don't have a medical background here but I just got mine sequenced... genome sequencing is pretty exciting - in 2008 it cost $100,000 to do a full sequence, today you can get one for about $1,000 and the price is dropping quickly.

From what I understand...

Humans have about 20,000 genes. Each gene consists of an average of 10,000 to 15,000 nucleotide bases (4 letter string of either A/C/T/G). A lot of study is focused on SNP (Single Nucleotide Polymorphism) where a single base is altered - say at a particular spot in the genome most people have an A, and you instead have a G - and this affects gene expression, sometimes in a critical way affecting your bodily function when measured against the baseline "normal".

What the genome database does is link every SNP you have - the database recognizes over 20,000 in mine - to a database that collates all medical studies ever done on this SNP versus the normal population, for some SNPs there are dozens of studies. For example, it could say that people with this SNP have a X% higher chance of Type 2 diabetes than people with the normal gene expression based on a list of referenced studies which you can then read. A person with a particular SNP could be more resistant to other diseases. Many drugs are known to have reduced effectiveness or unusual effects on people with certain SNPs, and it will list every single drug interaction that has been studied. Many SNPs are linked to mental functioning, intelligence, empathy.

For now the data is still really rudimentary - there's still a lot of work to be done by scientists to really understand how it all works. For one thing, it's really difficult to study - a particular SNP might show a certain drug interaction in the population of American people studied, but the same SNP might show a different interaction in a population of Chinese people in another study - the cross-interactions of SNPs must be mind boggling.

It sounds like a bit of a medical pipe dream - sequence everyone's genome at birth, so each person can be provided perfectly customized healthcare and education tailored exactly to their genome, with regular checkups scheduled to catch early onset of various diseases they are susceptible to.

In about 50 years people are going to think we're really primitive in prescribing the same medication for everyone when in reality every SNP variation should get their own variant.

The dystopian future SF writers tend to visualize is that once you get to the point where you can sequence the genome of an embryo, you can get an entire risk assessment of every single disease and trait, and then cull the embryos you don't want.
posted by xdvesper at 4:24 PM on July 27, 2016


One of my nieces, Peaches Swan, who was then 17, did the ice bucket challenge. My brother is a farmer and apparently they thought it would be a great idea to fill a tractor loader with ice water, raise it, and have Peaches stand underneath to explain what the ALS was and what the challenge was for (the shock to the nervous system imitates what ALS does), and then have my brother unload the ice water on her, while my sister-in-law taped it. All went well until the loader fell off the fucking tractor. You can hear my sister-in-law scream, "RUN PEACHES!!!!" and Peaches was fortunately quick enough to run out from under the loader in time. She wasn't hurt, but I nearly had a stroke watching the damn thing.

More seriously, a cousin of mine died of ALS in 2013. She was 43 years old, married, and had four children ranging in age from 14 to 5. I'm glad that researchers are making progress towards saving people from having to go through what my cousin did. It's a horrible, horrible disease. If I had to chose between having ALS and having cancer, I'd pick cancer.
posted by orange swan at 8:06 PM on July 27, 2016 [2 favorites]


Breakthrough or not this is good for me to hear. I was a huge crank about the Ice Bucket Challenge silliness when there's science to be done dammit, and I'm very happy to be proven wrong by the amount raised and the fact that it went to good research efforts. Even if the findings yield nothing, it's another step forward because ruling out a thing is part of science.

What? But if its not really a breakthrough, but is just over-hyped reporting then doesn't it undermine the whole endeavour?

It points to even further absurdities. not only are we funding science using populist media focused campaigns that have nothing "scientific" about them, we are even justifying the results of scientific research by populist over-hyped media reporting.

A viral marketing campaign was used to fund some meaningless research. Which t just paid researchers to sit around with gene-sequencing equipment for a year, with no aim or idea of what it would benefit / prove. So they located a possible gene. What now?
posted by mary8nne at 2:02 AM on July 28, 2016


What? But if its not really a breakthrough, but is just over-hyped reporting then doesn't it undermine the whole endeavour?

It's a breakthrough, but a lot of the headlines are confusing "breakthrough" with "imminent cure" or something. "Hmm... this gene seems to be over-represented" is the sort of thing that is a breakthrough when you're talking about ALS. We know that there are cases in which its hereditary and cases where it isn't (the "sporadic" cases). But I don't think (I'm rather out of date, so I could be wrong) we even understand how/if hereditary and sporadic cases differ beyond the obvious.
posted by hoyland at 4:34 AM on July 28, 2016


From the debunking article linked above:

[Vinay Prasad, MD, MPH, Assistant Professor of Medicine at the Oregon Health and Sciences University told us]:
"This is no breakthrough, and another sad and embarrassing example of academics and the media trumpeting very preliminary basic science work far beyond what they ought to. From the paper, the authors state “NEK1 has been previously described as a candidate gene for ALS. Here our findings show that NEK1 in fact constitutes a major ALS-associated gene with risk variants present in ~3% of European and European-American ALS cases.”


It was already a candidate, and only occurs in 3% and is really has little to no impact on treatment etc.
posted by mary8nne at 5:15 AM on July 28, 2016


You would think there would be a coordinated, well-funded effort to look into the origins of every rare or orphan disease. You would be wrong.
posted by Soliloquy at 10:48 AM on July 27 [+] [!]


Pretty much true of all diseases, rare or not. The NIH/PHS is given limited funds by Congress and that's doled out to institutes and agencies based on the proposed budgets. Pots of money are allocated to different research areas based on overall priorities, based partly on the impact of the disease and partly on lobbying efforts by activist communities. The pots are then divvied up among researchers based on the best proposals for research as judged by peer reviews and government scientists/administrators initiatives. Given the disparity between the frequency of ALS and, say, Alzheimer's or even Parkinson's, it's hard to imagine a bigger share going to it.

Of course, ultimately, we should be allocating all government dollars based on rational priorities, and that would mean we'd spend $36B on defense and $600B on health and safety research. But no one ever mistook the US government nor its electorate's representatives for rational actors.
posted by Mental Wimp at 4:23 PM on July 28, 2016


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