
Down syndrome reversed in newborn mice with single injection - uptown
http://www.abc.net.au/news/2013-09-05/downs-syndrome-reversed-in-newborn-mice/4936412
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tokenadult
A good submission. The article is appropriately cautious about reporting on a
preliminary research result in an animal model. That's refreshing. It helps HN
discussion to submit actual NEWS articles by professional journalists rather
than recycled press releases from PhysOrg or ScienceDaily. As usual, much more
research will be needed before this finding could possibly be applied to human
medicine, but it suggests new approaches worth investigating further.

~~~
Florin_Andrei
So, what's a good replacement for PhysOrg?

~~~
tokenadult
I was glad to upvote your follow-up question about better sources. I have not
tried the Reddit group mentioned in the other reply you received, but the
characteristics mentioned there sound helpful. I earlier posted a reply here
on HN

[https://news.ycombinator.com/item?id=4735122](https://news.ycombinator.com/item?id=4735122)

listing some of my favorite sources for science news. If I see a link (say,
from my Facebook friends) from PhysOrg or ScienceDaily, I NEVER assume that it
is worth submitting to Hacker News. (Longer story about that by request.) If
the recycled press release looks interesting and plausible, I try looking up
the name of the study author or key words from the study findings and see if I
can find a better source.

~~~
Florin_Andrei
Lots of good stuff there, thanks.

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kjhughes
Thank you for this submission.

Summary: The size of the cerebellum in most people with Down syndrome is about
60% of normal. Researchers at Johns Hopkins University School of Medicine were
able to achieve normalized cerebellum growth in Down-syndrome-like mice by
treating them with a sonic hedgehog pathway agonist at birth. Not only did
this single shot normalize cerebellum size through adulthood, it also resulted
in improved cognitive abilities usually associated with the hippocampus. These
improvements may have been due to a strengthening of the communications
between the cerebellum and the hippocampus, according to Roger Reeves, Ph.D.,
a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns
Hopkins University School of Medicine.

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icoder
Thanks for the summary. So they're basically treating a (albeit important)
symptom of the trisomy.

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ams6110
That's my interpretation of it as well. They are not actually repairing the
chromosomal abnormality, they are addressing its effects on brain development.
So I presume a treated person would still have the physical appearance
characteristics of Downs as well as the other health issues (I believe people
with Downs syndrome are much more prone to heart disease or problems).

I also wonder if the brain growth would be permanent (remembering _Flowers for
Algernon_ )

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brodney
> On the day the mice were born, scientists injected them with a small
> molecule known as a sonic hedgehog pathway agonist.

Obviously I had to investigate a gene called Sonic Hedgehog and how it could
come to have such a name. From the wiki[0]

>The hh loss of function mutant phenotype causes the embryos to be covered
with denticles (small pointy projections), resembling a hedgehog.

I'm glad to see a lack of temerity in a medical article, especially when the
results seem so very promising. Nonetheless this is a really great result.

~~~
XorNot
That gene as the wiki article notes is an example of why generally things in
the medical community need to be given serious sounding names. No one wants to
hear that the thing killing or making their child unwell has a silly name.

~~~
solistice
On the other hand, you can get so serious that it becomes comical again. Much
laughs were had in 5th grade about the endoplasmatic reticulum, out of no
reason beyond being a 5th grader. On the other hand, that's one of the only
cell parts I still remember.

~~~
flagnog
Even better: I called one of my classmates a homo sapien, he went to the
teacher and complained (he thought it meant he was gay) and the teacher said
"you are a homo sapien". Ah, 6th grade, good times.

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notjustanymike
Did this happen in every 6th grade? Or did we both know a guy named Walter?

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solistice
Nope. that happened in my 6th grade as well. We had particular fun with "homo
erectus".

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flagnog
Ha, never heard of anyone else doing this before.

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Nicholas_C
>There is no cure for Down syndrome

I would like to point out that it wasn't fully reversed, but some effects of
down syndrome were reversed. Still very awesome.

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ryansan
This is very encouraging and I appreciate that it doesn't set artificially
high expectations for it working in humans.

And I think I can claim learning my something new for the day in finding out
that something like a sonic hedgehog pathway agonist exists.

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karmajunkie
Geez, does nobody read Flowers for Algernon anymore?

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guard-of-terra
Don't be afraid. Flowers for Algernon is a touching story and a good warning,
but it doesn't mean there should be any "no-no zones" in science. It's just
you don't start with humans.

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vilhelm_s
The paper itself is here:
[http://stm.sciencemag.org/content/5/201/201ra120.full](http://stm.sciencemag.org/content/5/201/201ra120.full)

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DanBC
This is good news, and research to help prevent, treat, or cure Down's
Syndrome is probably a good thing.

But I'm gently squeamish about it. I know many people who have Down's Syndrome
(and other learning disabilities) and me welcoming this research feels a bit
like me saying those people should not exist.

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jff
That's an extremely odd attitude.

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mentat
Actually there's a similar attitude in the culturally Deaf. Their identity as
it relates to their Deafness means that they even look down on those who try
to make accommodations with having any hearing, the worst being a cochlear
implant.

[https://en.wikipedia.org/wiki/Deaf_culture](https://en.wikipedia.org/wiki/Deaf_culture)

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mike_b
[http://en.wikipedia.org/wiki/Flowers_for_Algernon](http://en.wikipedia.org/wiki/Flowers_for_Algernon)

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com2kid
An equally interesting question is, what would this injection do to people (or
mice I guess) who are born without any deficiencies?

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lostlogin
You can guarantee a genetically normal (there must be a better description)
foetus will get injected if a treatment like this came to exist, so this is a
good question.

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transfire
Parents should be allowed to opt-in for experimental treatment with this. What
could be learned from just a few real human tests could outweigh years and
years of purely academic study and potentially lead to real treatments decades
sooner.

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Symmetry
This is an interesting step. If we manage to use techniques along this line to
cure Down's Syndrome, I wonder if the next step another decade onwards
wouldn't be intelligence enhancement.

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caublestone
As someone whose brother has down syndrome, this is one of the most exciting
things I've seen on HN in a while. Thank you for posting.

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CmonDev
Sooner or later there will be a new better breed of humans. I say within 50
years.

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ffrryuu
How does this work on normal new borns? Super humans?

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plumeria
This reminds me of Flowers for Algernon!

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freejack
I'm going to try and say this in the most warm and well-intended way possible.

I wonder how long it will take before someone from the Christian right claims
that if science can reverse DS in mice that it won't be long before we can
reverse "gay" in people.

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cobrausn
We probably will be able to reverse 'gay' in people. We'll probably also be
able to reverse 'straight' as well. I've seen some sci-fi that touched on this
subject a bit.

[http://en.wikipedia.org/wiki/The_Forever_War](http://en.wikipedia.org/wiki/The_Forever_War)

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Florin_Andrei
I'm pretty sure even political inclinations could be flipped over, provided we
dig deep enough into the "machinery" up here.

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sillysaurus2
That's interesting to think about. On the one hand, it sounds absurd to say
that a medical procedure could influence someone's future political beliefs.
On the other hand, would that sound absurd in 1,000 years? We're really in the
very beginnings of understanding the human brain.

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rdl
I'm not a doctor, but I could probably influence someone's political beliefs
through medication, at least for the duration of treatment, and probably with
aftereffects lasting far longer. $20 per treatment, several treatments per
month. ((RS)-1-(benzo[d][1,3]dioxol-5-yl)-N-methylpropan-2-amine)

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nine_k
/* Am I the only one here who misread the title initially as "...with
singleton injection"? */

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epo
Headline grabbing from some researchers who are probably trying to preserve
their funding.

Some mice were genetically engineered to suffer brain shrinkage, this
injection partially reversed that. Downs's syndrome is a genetic abnormality
which affects many aspects of the brain and the link to Down's syndrome here
is entirely specious. The claim is as idiotic as observing that people
sometimes die from incisions, so reversing the effect of an incision by
applying a sticking plaster is heralded (with caveats of course) as being a
way to reverse death.

Oh, and it is Down's syndrome, named after John Down.

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tokenadult
_and it is Down 's syndrome, named after John Down._

The preference in the international medical literature is to name syndromes
WITHOUT the possessive suffix on the name of the discoverer, partly because
languages don't agree on what grammatical ending to use to indicate genitive
case. Thus the standard name of this syndrome, for people who don't more
descriptively say "trisomy 21," is "Down syndrome," without the apostrophe-s
ending.

[https://en.wikipedia.org/wiki/Down_syndrome](https://en.wikipedia.org/wiki/Down_syndrome)

[https://en.wikipedia.org/wiki/List_of_eponymously_named_dise...](https://en.wikipedia.org/wiki/List_of_eponymously_named_diseases)

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epo
I'm not conversant with the 'international medical literature' so I shall
assume you know what you are talking about. However, I don't take wikipedia as
an authorative source on anything.

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huherto
I disagree. Wikipedia links are very good, specially for informal discussions
like this one.

\- The content is readable by most people without having to have specialized
knowledge on the subject.

\- The content is open and reviewed by multiple people.

\- You have links to the references. In this case there is a link to this NIH
article.
[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667526/](http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667526/)
But the content is more technical and harder to read for most people.

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epo
I said it wasn't authoritative, I said nothing about readability or openness,
neither of which have anything to do with what is under discussion.

I can provide plenty of UK links which refer to Down's syndrome.

