
Doctors have reversed an inherited disorder in utero using a biotech drug - _Microft
https://www.technologyreview.com/s/611015/in-a-medical-first-drugs-have-reversed-an-inherited-disorder-in-the-womb/
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_Microft
What I like about this is its proof of concept nature. Now we know that it is
actually possible to prevent at least some parts of an inheritable disease by
one-time administration of a drug at the right moment in the development
process. That's awesome. There might be other diseases for which that approach
might also work. I hope it will spark interest in research into that.

The sad part is ofcourse the one about companies not being interested in drugs
for rare diseases, even more when they're not needed frequently. I really hope
we can find a solution to that.

~~~
hh3k0
> The sad part is ofcourse the one about companies not being interested in
> drugs for rare diseases, even more when they're not needed frequently. I
> really hope we can find a solution to that.

As that'll not happen all by itself because there's less money in that,
pharmaceutical companies should be legally required to spend a certain amount
of their research budget on rare diseases.

A nice follow-up read regarding one-shot cures: [https://arstechnica.com/tech-
policy/2018/04/curing-disease-n...](https://arstechnica.com/tech-
policy/2018/04/curing-disease-not-a-sustainable-business-model-goldman-sachs-
analysts-say/)

~~~
pc86
Yes, why allow companies to choose how to spend their own money? Let's
regulate! Why spend $1 billion to help 10 million people when we can spend $1
billion to help 25,000?

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rayiner
It's interesting that lead billing goes to the doctors who injected the drug
into a pregnant woman rather than the pharmaceutical company that developed
it. "Doctors" cure patients of disease; "drug companies" rip off consumers.

~~~
victor106
“Drug companies rip off consumers”

That is an extremely glib view. There are “some” drug companies that rip off
people. The problem with pricing in the Rx world is the high cost and
unpredictable nature of discovering new drugs.

Profit margin of tech companies is twice that of Rx companies. Would you say
that tech companies are ripping people off?

[http://www.businessinsider.com/sector-profit-margins-
sp-500-...](http://www.businessinsider.com/sector-profit-margins-
sp-500-2012-8)

~~~
bkmartin
The chart you reference shows that they are virtually the same...

All of Health vs All of Tech - yes, you are right. Tech is about double.

But Pharma, Biotech, Life Sciences show better returns over Tech as a whole
and virtually equivalent Software & Services return.

I would argue that there are definitely players in the Tech space that are
raking some very hefty profits, but are in highly competitive markets that
could see that erode into losses very quickly... I do not think we are quite
in the realm of price gouging and the lower barriers to entry in most of tech
keeps things from swinging too far off the charts.

~~~
vibrio
One should consider any survivorship bias in thinking about that. Also
consider that a series A in biopharma is commonly well above above $30MM, and
that doesn't generally even come close to funding proof-of-concpet clinical
studies. That combined with any survivorship bias complicates the economic
interpretations of cross industry profit margins.

~~~
bkmartin
That doesn't really apply here does it? My comment is only in reference to
S&P500 companies, that the OP to my comment referenced.

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codeulike
The science bits from the article:

 _The experiment, described in a case report today in the New England Journal
of Medicine, took place in Germany in 2016 at a clinic that specializes in
rare, inherited skin diseases—particular one called XLHED, in which patients
are born with fang-like front teeth and without the ability to sweat.

The problem: their bodies don’t produce a specific protein required to make
sweat glands.

The treatment exploited the fact that the missing protein is needed only
temporarily, between weeks 20 and 30, when the sweat glands form in a
developing fetus. Schneider says his team injected it directly into the twins’
amniotic sacs.

“The great thing about this is the critical time points in the intrauterine
development of these sweat glands,” says Anna David, director of the Institute
for Women’s Health at University College London. “I think it is the first time
you are seeing a protein drug used for correction of a genetic disorder before
birth.”

Corinna, [the parent], says she thinks the XLHED treatments worked. “Extremely
successful,” she says. “The twins can sweat normally.” They still have
somewhat unusual facial features and missing teeth._

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berdon
The only caveat to this approach, and it's minor, is that the inherited
disorder will continue to be inherited. So the children need to be aware that
when they have kids they'll want to have the same done (assuming nothing
better has come along) so their kids can also sweat.

I wonder if this will become a problem for us moving into an age where we know
enough to "fix" ourselves but not completely. Basically just more medical
riders, instead of a bum knee, you have a bum gene.

~~~
trophycase
This is already happening: See rates of C Sections.

~~~
magic_beans
What do C-Sections have to do with inherited gene disorders?

~~~
trophycase
Women who need C-Sections to give birth have children who are more likely to
need C-Sections when they give birth.

It is not a "gene disorder" in the traditional sense, but you could certainly
make the case that it is.

~~~
magic_beans
Many women elect to have C-sections (particularly in Brazil) who are otherwise
healthy, so this metric is not useful at all.

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lamename
Fascinating. I'd be extremely surprised if this disorder was not somehow
related to vampire myth origins long ago.

Poor understanding of the world before science came around lead to lots of
folklore and myths (i.e. fake explanations), given the facial features I'd be
interested to know of any historical link.

~~~
openasocket
This disease may be the root for some mythological creatures, but probably not
vampires. In folklore, vampires are corpses that continue to walk around and
attack people at night. Not a person born with these sort of features, but
rather an ordinary person who died. The details vary widely between cultures
and time periods, but many folkloric depictions of vampires did not actually
include fangs, and some don't even mention blood sucking.

It likely would have been considered a case of
[https://en.wikipedia.org/wiki/Monstrous_birth](https://en.wikipedia.org/wiki/Monstrous_birth)

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brian_herman
Wow this is amazing but scary like GATTACA the movie.

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carbonneutered
Somewhere in the US, there's a Goldman's Sack analyst furiously making phone
calls trying to prevent this catastrophic cure from spreading.

(Did I type Goldman Sachs correctly the first time?)

