
ALS Ice Bucket Challenge Donations Lead to Significant Gene Discovery - obeone
http://www.alsa.org/news/media/press-releases/significant-gene-discovery-072516.html
======
_archon_
I've been wondering for some time what the next step is for gene sequencing.
Shouldn't someone be working on a 50 year long study where people are brought
in at age 20, genes sequenced and dna stored, and an extremely thorough
battery of parameters (height, length of each long bone, eye color, etc.) is
measured. Tie everything in with medical history. Do the same thing every 10
years for each subject until death.

With a large enough sample pool, we'd be able to correlate features with
obscure genes, wouldn't we? Am I missing something fundamental?

It seems like now is the time to get started.

~~~
DougWebb
I think the fundamental thing you're missing is that a gene's behavior
throughout your life depends on more than just its sequence. Everything else
that goes on in your body, and in particular everything that goes in and comes
out of your body, can impact when genes are triggered to form proteins, how
those proteins fold, and what effect the proteins have.

At best, gene sequence data like you describe could provide rough
probabilities for some health conditions. That's as likely to lead to over-
treatment for a non-problem as catching a real problem early.

Sure, there would be some cases where everyone who has a certain sequence
winds up with the same disease, and it'd be good to discover those early in
life. (Ex: my wife was born with Wilson's Disease, which causes liver failure
by early adulthood 100% of the time without treatment.) But those cases would
probably be very few compared to the number of people who get freaked out by
things that might become an issue, but probably won't, and the cases where the
correlation is too weak to provide a warning, but a health problem occurs.

~~~
fleitz
Yeah I've always thought of genes as like dynamic code, it's hard to tell
what's going on until you run it

~~~
tkinom
I used to work for company that make DNA sequencer machine as embedded SW dev
~20 years ago.

I think the genes is more like static code. One can clone it easily. RNA is
like the stack, RSS, Register states - expression of the genes.

DNA is like a class, RNA is the object that is instantiation of the class.

BTW, the double helix structure is very much like full unit test coverage for
the bio-programming.

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wyldfire
I know we love to rain on social networks as lacking for one reason or
another. But taken together I think they're a large part of the success of the
fundraising here. Have we seen other global social benefits from social
networks?

~~~
manmal
I guess you could count self-help groups as a huge benefit. Or information
distribution within towns/cities.

~~~
ethbro
On the other hand of the scale, EHS and TI groups. Which, probably not the
most healthy.

[https://en.m.wikipedia.org/wiki/Electromagnetic_hypersensiti...](https://en.m.wikipedia.org/wiki/Electromagnetic_hypersensitivity)

[http://mobile.nytimes.com/2016/06/11/health/gang-stalking-
ta...](http://mobile.nytimes.com/2016/06/11/health/gang-stalking-targeted-
individuals.html)

~~~
knowaveragejoe
Another example of technology's double-edged nature. I'd add the Internet's
burgeoning conspiracy theory community to the list of unhealthy outcomes from
social networks.

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jypepin
Being able to get a follow up on those donations will help a lot driving
donations in the future. Being able to get a followup and really know what
your money is used for, and get confirmed that your money has actually
contributed to something significant is incredibly valuable and not enough
organizations do it.

That's what helped a lot charity:water, which not only promised to use 100% of
the fund to build actual wells in africa, it would tell you exactly which well
would get built with your money, where, and then send you a picture of the
well.

That's great to see that the whole ice bucket challenge actually helped the
cause.

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iamed2
Constructing a narrative around the usage of donations has been something
scientific/medical charities have struggled with in comparison with foreign
aid charities like World Vision. This article is a smart move for them.

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nipponese
I remain skeptical. Tax records show the Ice Bucket Challenge was extremely
profitable to organizers of the non-profit, so there is significant incentive
to keep the PR machine going.

~~~
naraga
There's nothing wrong on making money even in this space:
[http://www.ted.com/talks/dan_pallotta_the_way_we_think_about...](http://www.ted.com/talks/dan_pallotta_the_way_we_think_about_charity_is_dead_wrong)

~~~
nipponese
Maybe it's just scruples or a mis-understanding of charities, but earning
financial gain in the name of altruism seems morally bankrupt.

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alfon
To anyone suffering from this condition, or that know someone with it, watch
this video, doesn't hurt. It saved my life.
[https://www.youtube.com/watch?v=UY9FdULDV6M](https://www.youtube.com/watch?v=UY9FdULDV6M)

~~~
Dilan
My brother was recently diagnosed with ALS. Is there anyway I can get in touch
with you to have a chat about that video?

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dekhn
Interesting that the gene "discovery" is really just making an association.
The gene itself was discovered a long time ago
([https://www.ncbi.nlm.nih.gov/pmc/articles/PMC556810/](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC556810/)),
and associated with other negative outcomes.

Like many that are involved in diseases, the gene appears to be activated in
response to DNA damage.

~~~
JangoSteve
Yep, that's what pretty much all genomic discoveries are these days. Since the
Human Genome Project [1], which set out to map all genes in the human genome,
was considered complete in 2003, most studies these days seek to find the
correlations between genetic mutations and diseases.

[1]
[https://en.m.wikipedia.org/wiki/Human_Genome_Project](https://en.m.wikipedia.org/wiki/Human_Genome_Project)

~~~
dekhn
it's kind of amazing that woese managed to discover a whole kingdom of life
with just a few RNAs and the best we can do with thousands of genomes is make
weak associations.

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nonbel
I wish I didn't have to say this, but: Statistical significance != Success

We will have to wait a decade to find out if this was actually a significant
development that should be counted as a success.

~~~
sdoering
And to add to this, we cannot know, if the funding wouldn't have happened non
the less if IBC didn't happen.

And also to quote from the article: "NEK1 was discovered through a genome-wide
search for ALS risk genes in over 1,000 ALS families, and was independently
found through different means in an isolated population in The Netherlands. "

So they already knew about the gene and in time would have found out more on
it non the less. So the influence of the IBC seems less and less important,
while reading the piece.

Sad isn't it?

~~~
nonbel
Medical research has been taken over by this type of hype. It infests the
journal articles as well (although the hype there is usually more
sophisticated). The signal to noise ratio is very low right now.

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cmdrfred
Let's say this discovery leads to a drug/treatment for the disease. What
happens to it? Does a company get to patent it and then sell it back to the
people who paid for the research (with donations)? Does it become public
domain? This ambiguity has prevented me from donating to similar causes in the
past.

~~~
bacongobbler
The end result is what matters for most people, not the politics. Discovering
a cure for ALS would be an amazing medical feat.

To answer your question, the ALS association raises public awareness about
ALS, provides care services to ALS patients and distributes funding to
research projects on ALS. The politics to when one of these research
facilities discover a cure for ALS is up to them. They are just receiving
grants from the ALS Association.

~~~
cmdrfred
So it is as I suspected. That may work for some people, but I won't personally
donate to any "for a cure" causes. My money's better spent elsewhere.

~~~
starky
There are many ALS organizations, some larger than others. They all typically
split their money between support and research, but a local ALS chapter will
have a larger focus on providing support and equipment for people with the
disease in the area.

ALSA got most of the support from the ice bucket challenge, and their focus
will be more on research as a national charity, but local ALS chapters do a
ton for a rapidly changing and expensive disease.

~~~
cmdrfred
So it's less about a cure and more about patient services? If it was more
advertised that way I'd chip in. I find some "charities" suspect for medical
bills. I do some work for an oncology practice and heard a few of the doctors
talking about the "charity" they set up. Basicly they find a patient that
would never be able to pay the bills that are owed (IE. Patient has no assets,
is 90 years old, and owes 200k on a fixed income) and forgives that debt via
charitable donations. "It's a way to get paid for things you would not be
otherwise" were the exact words I believe.

They have nice little pamphlets that talk about "Give the gift of honor". I
find it rather despicable how they use the emotions of relatives of those who
have passed on to pad their bottom line.

~~~
starky
I can't speak for all the different ALS charities, since they are independent,
but as a charity their financial statements will be available. For example, my
province's ALS charity spent about $500k last year on equipment loans, while
research was only about $20k through donations to ALS Canada. The ice bucket
challenge donations were mostly donated for research, as that is what people
were expecting to be donating for, and they only have so much patient support
they need to give in any year.

I have a family member with ALS and can confirm that they have done a ton to
support with various equipment needs and finding the right equipment for them.
Support caregivers are only partially paid for (though I can't remember
whether that is through the charity or the province).

------
Mz
_Understanding NEK1’s role in disease will provide an important new target for
therapy development._

I hope that means they will use it to try to map the pathology of the
condition and not just develop gene specific drugs.

I do not know why this is being downvoted, but developing expensive drugs
without really making progress on understanding the pathology is something
they have done with other disorders. Money before patient care. And it is a
sucky practice.

------
cmtcosta
someone disagrees: [https://boingboing.net/2016/07/28/the-ice-bucket-
challenge-d...](https://boingboing.net/2016/07/28/the-ice-bucket-challenge-
did-n.html)

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foolinaround
Should the funding of critical discoveries such as this be left to the success
of a social media campaign, which may or may not succeed?

~~~
rhaps0dy
Obviously yes, if the alternative is no campaign and no funding at all.

A chance reasonably larger than zero is better than a chance very close to
zero.

~~~
nostromo
I think that OP raises a fair point, regardless of the downvotes.

Susan Komen, the Ice Bucket Challenge, and Movember raise a ton of money that
could be used for more common and deadly diseases.

[http://andrewgelman.com/wp-
content/uploads/2014/08/hyU8ohq.j...](http://andrewgelman.com/wp-
content/uploads/2014/08/hyU8ohq.jpg)

Yes, I'm happy that there has been an advance for ALS, but if you take a step
back, it does appear that there may be a misattribution of limited research
dollars.

~~~
finnh
Except that the Ice Bucket Challenge did not misappropriate research dollars.
They created new research dollars out of thin air. There is not much reason to
believe that the people who donated in response to the Ice Bucket Challenge
would have otherwise donated those same dollars to some other, more common
disease.

As usual, Surowiecki does a great job:

[http://www.newyorker.com/magazine/2016/07/25/als-and-the-
ice...](http://www.newyorker.com/magazine/2016/07/25/als-and-the-ice-bucket-
challenge)

------
skykooler
I saw "alsa.org" on a HN post, and expected this to have something to do with
sound cards.

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dominotw
23andme has not yielded a single significant correlation so far. What makes
this particular correlation _significant_? .

~~~
maxerickson
This is the announcement of a correlation. The question would be whether
knowledge of the gene is useful in dealing with the disease.

The difference is probably that they sequenced full genomes, whereas 23andme
(mostly?) looks at known genes.

~~~
dominotw
sorry, emphasis on _significant_ . 23andme has tons of correlation data but
all of it is useless garbage.

~~~
zeddie
23andMe has contributed to the science described in several dozen articles
published in the top journals:
[https://www.23andme.com/for/scientists/](https://www.23andme.com/for/scientists/).
Is all of that useless garbage?

~~~
dekhn
They have plenty of publications, most of which are "we found genes assoicated
with <X>".

Unfortunately, association studies don't tell you much beyond "there is a
correlation between X and Y" which typically needs to be followed up with a
lot more research. It's not even clear that association studies really pay
their way- they cost a lot and produce associations, but the link to disease
treatment is often very poor.

it's really a shame nobody has truly shown a very convincing way to convert
genotyping/genomics and medical records into better treatment.

~~~
dominotw
>it's really a shame nobody has truly shown a very convincing way to convert
genotyping/genomics and medical records into better treatment.

ugh..I am being downvoted for asking what makes this particular discovery
_significant_ . I am really curious, what are some of your thoughts on what
makes this particular correlation different.

~~~
dekhn
There is nothing significant about this "discovery". It's just a press
release, the full publication is here:
[http://brain.oxfordjournals.org/content/139/5/e28.extract](http://brain.oxfordjournals.org/content/139/5/e28.extract)
However, it's pay-to-read.

Basically, the reason this is not significant is that there is no way to turn
gene-disease associations into treatments. At best, it helps you focus on a
gene target, but as you can see, this gene's protein product is an important
player that has a role far beyond preventing/causing (or affecting the
severity of) disease.

What's different (and it's not particularly different) is that this PR is in
response to a social media challenge, the research was partly funded by it.
Whether that means anything is hard to say- I don't really see ice bucket
challenges scaling up to many diseases.

~~~
dominotw
thanks for your answer. I did more research on this last night and it gels
with your comment.

