

Rare Mutation Kills Off Gene Responsible For Diabetes - mhb
http://www.nytimes.com/2014/03/03/health/rare-gene-protects-against-type-2-diabetes-even-in-obese-people.html

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ghshephard
What's very interesting about this discovery, perhaps even more so than the
discovery about Diabetes, is that the results directly contradict research
that was conducted on Mice.

So much medical research, and drug trials, are based on the what the reactions
of mice are; this discovery makes it clear we cannot rely on mice for
everything.

If you read to the end of the article (spoiler) - the original paper was
rejected for publication because it contradicted research that showed what was
happening in humans, could not be occurring because mice reacted differently.

~~~
ekianjo
I've been saying this for years. Most of the tox studies or efficacy studies
in mice have poor or no models that correlate with human biology. They are
indicative at best but should never be used to give a black or white story.
The pharma industry and academia is throwing every single year dozens of
potentially active molecules because they see toxicity in animals. Note that
animals models have also permeated the regulatory bodies, therefore making it
into de facto requirements to develop drugs. And it is so rarely ever
contested on scientific grounds, where the Science part is effectively very
thin.

~~~
Ygg2
So, we need a better mouse.

How are computer simulation at modelling drug efficiency? Better than mouse,
worse, unknown?

~~~
zacinbusiness
I think they are poor because there are so manny factors involved that it's
difficult to create a reliable model. But I don't know, so this is my opinion.
Computers could probably help test simple hypotheses but I don't think they
could be used as evidence to begin human trials.

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JumpCrisscross
> _deCODE Genetics, a company with data on genes and diseases for the entire
> population of Iceland. The American drug company, Amgen, bought deCODE and
> its valuable genetic database._

Based on Iceland's reaction to its financial crisis in 2008, I would not have
expected such a dataset to be privately held.

It seems in 1998 the Icelandic Parliament "permitted public bidding for the
right of a company to create" a "population-wide genomic biobank by collecting
data from the entire population of Iceland". It then granted deCODE "the right
to create this database after the company made a successful bid to do so" [1].

[1]
[http://en.wikipedia.org/wiki/DeCODE_genetics#History](http://en.wikipedia.org/wiki/DeCODE_genetics#History)

~~~
kakoni
Wasnt expecting this either. And now the whole database is owned by multi-
national pharmaceutical.

~~~
dagurp
There was a lot of discussion about the whole thing when the bid was made by
deCODE. When they got the permission, people were allowed to opt out, but the
general attitude towards the company was far too positive at the time.

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trekky1700
I got excited reading the title thinking it was Type 1. Sigh, more waiting I
guess.

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zacinbusiness
"...even fat people.."

"..the fat old people..."

Is that proper language for an NYT article? It reads more like something from
The Onion.

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alashley
I found the gratuitous use of the word 'fat' in this article kind of jarring.

~~~
Zikes
It only appears three times, is a proper medical term, and is absolutely
relevant to the article subject.

~~~
daeken
"Fat" as a description of a person is as medically valid as "stupid". That is
to say, not at all. "Overweight", "obese", and others are actual medical terms
that have real definitions, quite unlike "fat".

~~~
nevvvermind
Oh, I see. So synonyms of the word "fat" have real medical definitions. I
think it's just that "fat" doesn't sound pretentious enough, so it's not
clinical.

~~~
irremediable
They don't mean precisely the same thing. "Overweight" and "obese" can be
defined, as categories, according to BMI, WHR, body fat percentage or similar.
"Fat" is a lot less clearly definable.

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msie
There must be some law where it takes at least 10 years before a medical
discovery becomes a treatment available to the general public.

~~~
rcthompson
That's because "destroy a gene" is not a treatment. The process of finding a
molecule that inhibits the action of the gene, is not rapidly metabolized by
the body, is capable of crossing the cell membrane, and doesn't kill people at
the same dose as it has its effect takes a while. You have to try a _lot_ of
molecules to find one that satisfies all these requirements. There are efforts
to speed up the early selection process, such as using computational chemistry
approaches to compute which molecules can "dock" with a protein's active site.
This is hard though, because proteins & small molecules are not rigid, so it's
much harder than just doing a jigsaw puzzle in 3-D. I'm sure robotics is also
being used to speed up the initial drug screening, but I know less about that.

Also consider that there's no way to tell the long-term toxicity of a drug
except by running a long-term study.

Basically, my dad (who works as a pharma researcher) told me almost exactly
what you proposed: it takes 10-20 years to develop a drug and bring it to
market once you have a target to develop against.

~~~
ekianjo
> I'm sure robotics is also being used to speed up the initial drug screening,
> but I know less about that.

Yes, for combinatorial screening. But these are very simple robots.

