
Huntington's Disease gene is found (1993) - apsec112
http://news.mit.edu/1993/huntington-0331
======
king_panic
Antisense therapy for Huntington's is in clinical trials now.

[https://www.medpagetoday.com/neurology/generalneurology/7711...](https://www.medpagetoday.com/neurology/generalneurology/77110)

It's not a cure, but shows the potential to significantly slow, and possible
halt (in some), its onset and advancement.

Same therapeutic approach as Spinraza

[https://www.nytimes.com/2016/12/30/business/spinraza-
price.h...](https://www.nytimes.com/2016/12/30/business/spinraza-price.html)

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sonofgod
Twenty-five years after we found the gene, and "there's currently no cure for
Huntington's disease or any way to stop it getting worse."

[https://www.nhs.uk/conditions/huntingtons-
disease/](https://www.nhs.uk/conditions/huntingtons-disease/) (2018)

~~~
jostmey
It's a testament to two things:

1\. Biology is hard, unimaginably harder than writing a piece of software, for
example.

2\. The way research is funded is horribly inefficient and in serious need of
an overhaul. I'm all for pouring more money into research, but too much
research takes place in bloated universities and too little money trickles
down to the scientist doing the actual work.

~~~
nextos
This is so true. The principal investigator model creates huge research groups
that are terribly inefficient. Instead of having a small set of agile
researchers, it promotes research groups with tons of middle managers and
charlatans. Pure rent seekers. I say this after being a researcher in a few of
the best universities in the world. It's pretty hopeless.

~~~
imranq
I’d love to hear more about your experience. I’m designing new ways of
conducting research at a big research institute.

~~~
nextos
Feel free to drop me an email if needed. Contact information is in my profile.

As a brief summary, I think keeping research groups small and most funding
internal does solve lots of problems. I think you want to avoid at all costs
having a principal investigator that publishes 50 papers per year and
supervises 20 students simultaneously. Which means he is actually doing none
of these things. Just stamping his signature everywhere, and doing a bit of
politics to raise funds.

Howard Hughes Medical Institute conducted a long investigation on how to do
good research prior to starting Janelia Campus. They looked into very
successful institutions (AT&T Labs, LMB, CSHL, etc) and drew some equivalent
conclusions to what I stated above [1].

[1]
[https://www.janelia.org/sites/default/files/About%20Us/JFRC....](https://www.janelia.org/sites/default/files/About%20Us/JFRC.pdf)

~~~
imranq
Excellent, thank you!

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peteretep
Here’s hoping the cures come in before it kills me :-P Got high hopes for
IONIS-HTTRx

~~~
modusoperandi
Wife has a CAG of 45. We're nearby a city center that is part of the trial and
it seems like she's met all the criteria to be included so we're hopeful. Not
looking forward to the monthly or bi-monthly lumbar punctures but maybe it
will postpone some of her symptoms from getting worse.

~~~
peteretep
Good luck! Hopefully she’s young enough that she’ll some less invasive
treatments come to market too

------
bjoli
Huntington sucks. A neighbour of mine got it a long time ago, and in the
beginning he just got slightly weird, then his wife left and got custody, then
the delusions started setting in and before he really got any help he had
killed himself.

It is the loneliest death I can imagine.

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spurcell93
Does anyone know if CRISPR has been or even can be used as a treatment? If the
gene could be identified prenatally?

~~~
dnautics
questions:

1) how would you get CRISPR into the brain?

2) how would you guarantee that nearly 100% of the target cells get it. The
disease is a dominant condition, and by virtue of its putative mechanism a
minority of untreated cells could still trigger the problem (though presumably
onset might be delayed)

3) I would worry that if you do the CRISPR cut in the wrong place, or at the
wrong time, you could instead make the tandem repeats _even longer_ which
would make the progression of the disease faster.

4) Outright deletion of the gene is -- who knows. AFAIK all humans have some,
low number of tandem repeats and the disease emerges when you have a lot of
tandem repeats. IIRC the mouse tandem repeat KO gene model has no side effects
but stuff like alzheimer's AB being protective of certain viral brain
infections is coming out, so maybe there's some function there? And lab mice
aren't really exposed to too many pathogens.

~~~
dnautics
here's someone who did the deletion with CRISPR in the petri dish, and not on
brain cells:

[https://www.frontiersin.org/articles/10.3389/fnins.2018.0007...](https://www.frontiersin.org/articles/10.3389/fnins.2018.00075/full)

and I correct myself, there is a phenotype to the deletion of the polglutamine
track - the mice are dumber.

[https://www.ncbi.nlm.nih.gov/pubmed/16403806/](https://www.ncbi.nlm.nih.gov/pubmed/16403806/)

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neonhat
Why the fuck is medical news from 1993 being posted on Hacker News?

