The first commercial gene therapy to provide an outright cure | Hacker News Reader

The first commercial gene therapy to provide an outright cure

technologyreview.com

135 pointsjerryhuang10037 comments

As the article mentions, the pricing of this will be extremely interesting. The outright Hep C cure (Sofosbuvir/Sovaldi) was one of the big stories in pharmacoeconomics last year, which is very interestingly priced globally (Nice paywalled article discussing this - http://thelancet.com/journals/langlo/article/PIIS2214-109X(1...)

Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis for the treatment, and possibly cure, of Spinal Muscular Atrophy. https://avexis.com

If you have not heard of SMA, you should look it up. I had not heard of it until my 2 month old son was diagnosed. http://www.curesma.org/sma/about-sma/

As one of the unlucky ones with this disease, I'm very happy to see some advances made in the field. (Tho I've been hearing about promising advances for decades, without ever seeing any concrete result...)

Did you find other organizations working on gene therapy for SMA?

I know of no other gene therapies, but other treatments are very real, and very close to being approved. My son is in a trial of nusinersen with Ionis Pharmaceuticals. The results of this drug are astounding.

Thank you very much!

I contacted the company and am now waiting for a response.

"Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis"

I would be very interested to know how the economics of that work out. Is this a classic case of the costs and risks publicized (OSU) and the profits privatized (Avexis) ?

I believe with so called "Orphan diseases" the economics of research and eventual market release rarely work out for private companies. I believe it takes a research phase funded by charities, grants, and tax breaks for companies to have any interest. As a family affected by this, whatever gets this to market. However, I am sure someone will make money.

The future is now - 1) Self-driving cars 2) Flights to Mars in the next 10 years 3) Gene Therapy and Crisper 4) Robots are actual real world discussions

Happily no flying cars (We would all die), No AI yet (In the future AI I love and respect you and welcome your presence in our world)

Gattaca - The film presents a biopunk vision of a future society driven by eugenics where potential children are conceived through genetic manipulation to ensure they possess the best hereditary traits of their parents. The film centers on Vincent Freeman, played by Hawke, who was conceived outside the eugenics program and struggles to overcome genetic discrimination to realize his dream of traveling into space. https://en.wikipedia.org/wiki/Gattaca

This is just the crack in the wall. Philosophy and Ethical questions will make this one of the biggest stories for the next decade or more.

I know Gattaca is a favorite of many people I had a fairly negative reaction to it.

Vincent has bad genes and he's trying to get in to the Space Program. That's not Sci-Fi, that's the actual Space Program, at least NASA's and always has been. As one example, bad eyes genes? No space travel for you!

And why shouldn't it be that way? It costs billions of dollars to put people in space. Seems like it would be irresponsible not to stack the deck toward success from every possible dimension. Sure some guy with a genetically diagnosed bad heart has some chance his heart will hold out but it seems practically criminal for him to risk the mission and all his fellow astronauts lives on a known diagnosis of high risk.

Even today AFAIK US fighter pilots also effectively have gene based selection.

Although hey, to keep it relevant it sure would be awesome if they could correct the genes as an adult. Need 20/20 vision get this gene therapy. Need a good heart get that gene therapy...

Actually, the real current space program doesn't exclude people with bad genotype, it excludes people with bad phenotype or inadequated demonstrated abilities. (Which are more or less loosely correlated with genetics, but not the same thing as genetics.)

> Even today AFAIK US fighter pilots also effectively have gene based selection.

No, again, its phenotype and abilities, not genotype, on which selection is based.

Not just US fighter pilots. In the US Army infantry, as well.

No manned flight to Mars in the next 10 years, I bet. (Why anyone would want that escapes me... Then again that is why I will be wrong, if indeed I will be.)

I'm in favor of steps, big or small, toward lessening humanity's total reliance on the viability of life on a single planet.

Humanity being its own only remotely dangerous enemy, I never understood how more planets help.

Maybe if you only count intelligent enemies. Otherwise asteroids, gamma ray bursts and planetary dynamics are also dangerous. A second planet would let us recover from all of those. Except for maybe a gamma ray burst depending on how close the second planet was. Even if you limit the scope to ways we may kill ourselves: Nuclear war would likely be contained to a single planet. A second would at least improve our odds.

Disclaimer: I very much agree with the sentiment of the comment you responded to. I don't even plan on having kids or anything. I just imagine a dark and boring universe deprived of humanity drifting off towards it's icy death with nothing to replace us.

Humanity faces many dangers, one of the largest being itself That doesn't mean we shouldn't do what we can to reduce or eliminate other dangers (planet level extinction event).

Also, even though it doesn't eliminate our ability to wipe ourselves out, that it's a a step towards setting that capability back a few decades is also beneficial (it should be very easy to identify and destroy long-range nukes in space).

Sure. I have no idea where the (vanishingly unlikely) 10 year window is from, though. It would be suicide for all the passengers.

Somebody will want it. I also have no idea why would somebody, but somebody will.

May take longer than 10 years to the prices get low enough for those some people that want to pay. But a suicide mission to Mars is very likely. And won't bring us any closer to definitively living in space - investments on our next models of smartphones will probably be more relevant.

Will be easier once we have can upload our brains to the singularity and not risk bodily harm by going =)

I shall write a virus that convert uploaders to the church of singu

>No AI yet (In the future AI I love and respect you and welcome your presence in our world)

Roko's Basilisk [0] is pleased!

[0] http://rationalwiki.org/wiki/Roko's_basilisk

CRISPR

You're right, of course, but I don't blame GP. This is a pet peeve of mine that I've only really become aware of due to CRISPR. Most writing styles[1,2] in newspapers, etc. place a limit on all-caps acronyms so as not to stand out too much to the reader. This is fine, of course, but using Crispr instead of CRISPR leads to crisper.
An odd hill to die on, I'll admit.
1: https://twitter.com/sarahzhang/status/650703501702508544
2: https://twitter.com/SteveAConnor/status/650711199433256960

FWIW, British English specifies that acronyms only have the first letter capitalized while American English capitalizes all of them.
This has been causing confusion well before CRISPR. Exif vs EXIF fights in photography forums have been going on since modern digital cameras were invented & it's simply because the Japanese used the British version of Exif.

I've only seen the British English acronym thing be the case when the acronym is pronounced, and I think it's mainly the BBC that does this.

Wait, don't you mean the Bbc? ;)

BBC is not an acronym because you pronounce it as a series of letters not as a synthetic word. I think.

No, that's the Beeb.

GP here Also auto correct causes changes, but I am the worlds worst speller. My brain just doesn't think in letters.

>Happily no flying cars
Maybe flying cars. http://www.ehang.com/ehang184

Here's how you price & sell this. I figure the long term cost structure of all/most gene therapies diminish rapidly with each additional cure. i.e. The first two are prohibitively expensive to develop. The next two will be less, potentially a TON less. What a big pharma like GSK does is spread their cost of R&D across all future incomes of future genetic treatments. Then develop genetic treatments for anything and everything that can be treated genetically. So you start with the rare things, like here. Then you go for the cancers and things that have many more patients. Over time you wind up with, say, cures for things like male pattern baldness. Things where there are millions of highly willing to pay individuals. In the longer term they're suddenly selling a product multiple times to nearly everyone. Suddenly they're not selling the cure for a rare condition, but selling a gene 'vehicle' - possibly at used or new car prices.

And I will happily dump most of my income into whatever they're hawking. Nobody chooses to get old. It's forced upon us in the most awkward way. I will happily pay someone to prevent (or cure) aging in myself, and shift the time of my death to a time of my choosing.

I wonder how this scales to other single-defect diseases? After the initial R&D, do you just swap out one sequence of genetic material for another in order to repair other diseases?

Depends on the disease. Disclaimer, I'm not a doctor or researcher! YMMV
Those diseases with active bad genes controlling the behavior of cells that are replaced at a fast rate would be more likely to effectively disappear after just the treatment, such as some blood or skin diseases.
Those who changes how the body grows (like say skeleton growth or other cells with slow replacement) would still leave the body in the condition it was in just before the treatment. They would effectively be chronic unless you can simultaneously fix the existing faults using for example surgery or a secondary therapy.
But they wouldn't continue to deteriorate in the cases where the continued activity of the bad gene drives the deterioration.
And syndromes caused by genes that only had to be active once (like in childhood) and now is dormant won't get fixed by gene therapy (but it MIGHT prevent it from being hereditary, if properly propagated in the body)

Take a look at Bluebird Bio and their gene therapy for beta-thalassemia. Great initial response, but then the effect wore off.
The other challenge is repeat dosing. Many of these gene therapies use viral vectors that the body develops an immune response to. You can't dose a 2nd time unless you change the vector (or suppress the immune system).

Question: can this type of gene therapy be reversed?

The procedure in the article could not be repeated to reverse the effect. Once the altered stem cells take hold in the body it would be necessary to destroy them to reverse the effect.
It could later become possible to undo the procedure using some method that was able to alter the cells in the body.

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