
In a First, US Doctors Use Crispr Tool to Treat Patient with Genetic Disorder - mhb
https://www.npr.org/sections/health-shots/2019/07/29/744826505/sickle-cell-patient-reveals-why-she-is-volunteering-for-landmark-gene-editing-st
======
intsunny
That article was from July 2019, there is an update from today:

[https://www.npr.org/sections/health-
shots/2019/10/10/7667657...](https://www.npr.org/sections/health-
shots/2019/10/10/766765780/after-a-life-of-painful-sickle-cell-disease-a-
patient-hopes-gene-editing-can-hel)

The patient gets to go home today.

------
krick
Reminds me: this guy used gene therapy to cure himself of lactose intolerance
quite a while ago. Not sure how common it actually is among biohackers.

[https://www.youtube.com/watch?v=J3FcbFqSoQY](https://www.youtube.com/watch?v=J3FcbFqSoQY)

~~~
dekhn
People who do this are usually irresponsible and don't even know whether
they've achieved their goal or not.

"""Just to make sure this is really clear because people have been angry about
this ever being tested in more humans. This will not be used in humans again
until significantly more testing is done and the manufacturing protocol is
massively refined. This could mean years before another test is conducted.
More tests will need to be done in animal models as well. Maybe we'll do away
with the viral aspect all together and completely overhaul the DNA. The reason
this video was posted was because I want this to be an open source technology.
If you have suggestions for how it can be improved, leave it in the
comments."""

I spent 20 years of my life working towards gene therapy and to see idiots do
stuff like this (in an incompenent and unconvincing way) is so frustrating.

~~~
0xffff2
You didn't actually tell us why it's irresponsible. Is there a real risk of
them hurting anyone but themselves?

~~~
DecayingOrganic
A neuroscientist (nate1212) on reddit offered the following reasons:

    
    
      - He just possibly infected his whole digestive system. Not just small intestine, but stomach 
        as well. Furthermore, AAV can potentially exhibit transcytosis through epithelial layers, 
        suggesting that it's possible the virus infected more than just his digestive system.
    
      - He did not determine an appropriate dose, and so he likely infected with a HUGE genetic 
        payload. Overexpression with AAV can kill infected cells, which means this man is risking 
        his digestive lining.
    
      - Neither the promoter nor the encoded protein itself are human, potentially risking 
        (possibly severe) autoimmune reaction.
    
      - There are few/no long-term studies on effects of AAV integration and expression in humans. 
        There is indeed evidence that AAV increases risk of cancer, almost certainly in a dose- 
        dependent manner.
    
      - AAVs could integrate randomly into your genome in low frequencies (0.1% to 1%), meaning that they could just by 
        chance disrupt a gene you really need to not get cancer.
    

The person in the video also suggested "trials for volunteers" (on his reddit
post), but immediately backtracked on that after he learned that people cannot
legally consent to such experiments.

~~~
0xffff2
None of those seem to affect anyone else, so as long as the person
experimenting on themselves is of sound mind I don't see the problem.

~~~
dv_dt
Not seeming to affect anyone else seems like an insufficient condition. It
should be predictably not going to affect anyone else with high reliability -
and I strongly suspect this was not the case.

~~~
hnick
It can also affect people indirectly, which leads to the same reasons we have
laws requiring seatbelts or motorcycle helmets.

Not everyone wants to see someone die in a horrible way and have to clean up
the mess.

------
rubicon33
Does anyone know of any companies hiring software engineers in this field?
It's basically my dream job to somehow combine my interest in DNA/Genes with
my skillset (programming)

~~~
jfarlow
In the bay area:

We are! (Serotiny): [https://serotiny.bio](https://serotiny.bio)

Synthego: [https://www.synthego.com/](https://www.synthego.com/)

Mammoth: [https://mammoth.bio/](https://mammoth.bio/)

Zymergen: [https://www.zymergen.com/](https://www.zymergen.com/)

Boston:

Arbor: [https://arbor.bio/](https://arbor.bio/)

Asimov (kind of): [https://www.asimov.io/](https://www.asimov.io/)

Ginkgo: [https://www.ginkgobioworks.com/](https://www.ginkgobioworks.com/)

Also just happy to chat about the (very interesting, vibrant, if still tiny)
intersection of software & synbio.

------
OJFord
For a second I was really pleased to see a 'decline and go to plain text site'
button on the cookie mask, but it goes to a page with only links to 'top news
stories' etc. and not the actual article.

What's the point?

------
mostlyjason
Back in 2017, 60 minutes covered a group that was cured of sickle cell disease
with gene therapy. How does this approach differ when they already showed
success? [https://www.cbsnews.com/news/could-gene-therapy-cure-
sickle-...](https://www.cbsnews.com/news/could-gene-therapy-cure-sickle-cell-
anemia-60-minutes/#)

~~~
el_cujo
Just skimming through the article you posted, it says trials with a similar
treatment resulted in one patient dying from a massive immune response and two
other got cancer. Sounds like it relies on a virus to deliver the DNA, but I
didn't read too carefully, so maybe CRISPR will turn out to have fewer side
effects or a greater success rate. I'm pretty sure one of the up-sides to
CRISPR is compared to other gene-editing techniques it's relatively cheap,
which is always a plus.

~~~
maxerickson
The death and cancers mentioned over there were from gene therapy trials in
general, not the specific study in the link.

------
indienkid
FYI a little misleading that it's posted now, since the linked article came
out in July.

------
btfreeman
Sarah Cannon, where this trial took place, purchased Boston based Genospace
~18 months back. Curious of Genospace's role in this and if they are able to
add value to any other Sarah Cannon trials.

------
sunstone
It would be interesting to see the legal release this patient had to sign to
get this done in the US.

------
dghughes
From what I recall CRISPR is always used with another technology allowing more
precision. CRISPR is too broad so it needs something with more precision to
assist.

I skimmed the article and did a quick search but I can't recall the name of
the second method.

~~~
adventured
Are you thinking of eg CRISPR Cas9 and or Cpf1?

[https://en.wikipedia.org/wiki/CRISPR#Cas9](https://en.wikipedia.org/wiki/CRISPR#Cas9)

------
tyingq
Assuming they use CRISPR outside the body, on blood, then infuse the blood
back in...

Are there any credible risks that something unexpected happens?

~~~
maxerickson
That isn't what they are doing.

They are extracting bone morrow and editing that and then reintroducing it.
It's basically a bone marrow transplant using the patient's edited stem cells.

[http://www.crisprtx.com/programs/hemoglobinopathies](http://www.crisprtx.com/programs/hemoglobinopathies)

Words like "credible" and "unexpected" sort of make it impossible to answer
the question. The doctors probably expect some editing errors and things like
that. They are also doing a really small study to see what happens.

~~~
tyingq
_Words like "credible" and "unexpected" sort of make it impossible to answer
the question_

I guess I could reword. Is there more than a remote chance the patient dies
because of an error related to the gene editing?

~~~
dekhn
To know that with any confidence, you'd have to do this for a lot of people
and look at the stats. We don't currently have the technology to answer a
question like that convincingly for n=1 studies.

------
pmarreck
She is literally GMO.

So can we stop it with the anti-GMO-at-all-costs worldview?

~~~
neolefty
Editing human DNA will intensify the debate compared to editing crop plant
DNA, I am sure.

It's a little easier in this case since it's not a heritable change (only bone
marrow DNA was edited), but as others have pointed out elsewhere, heritable
changes would be a much bigger deal.

