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Doctors have reversed an inherited disorder in utero using a biotech drug (technologyreview.com)
123 points by _Microft 9 months ago | hide | past | web | favorite | 28 comments

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.

That's not entirely true. Companies like BioMarin take advantage of the Orphan Drug Acts to make drugs for rare diseases. Then they get bashed for charging loads for these drugs. Damned if you do and damned if you don't!

> I really hope we can find a solution to that.

Hopefully insurance companies will find a way to pay a fair amount, since they'll likely pay less for a one-time cure than during duration of coverage for treatment.

> 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...

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?

>As that'll not happen all by itself because there's less money

Aren’t we both reading the same article about that happening “by itself”?

I think you'd be more likely to get a better outcome by taxing pharmaceuticals (or just make it part of regular taxes businesses in general pay) and using that money to fund research. If the same pharmaceutical wants to apply for a grant to work on a drug, that's fine but I don't think you're likely to get good results by forcing some them to work on a problem they're not already interested in solving.

> pharmaceutical companies should be legally required to spend a certain amount of their research budget on rare diseases

Assuming greed, wouldn't they identify the illnesses with the least likely abilities to cure? (or at the least, least likely to affect their profits, though perhaps they could focus on torpedo'ing a competitor in another area that focuses on a condition they don't)

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.

“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?


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.

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.

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.

Strawman fallacy!

Please stay on-topic! Well, Facebook is collecting data and selling it to pharma companies for probably more than advertising, I suppose. Yes, they are part of the problem. I'm not generalizing who's at fault, but there is a problem.

How much credit should an inventor get if their invention doesn’t work, they can’t make it work, they go out of business and stop working on it, then someone else comes along and figures out how to use it for something useful? I’m not sure what the right answer is exactly, but it seems right to give the second person a substantial part of the credit at least.

The mother/parents was/were the one that decided it was a good idea. The doctor and university were willing to do the paperwork or whatever.

It's not really even an invention, it's a human protein that was probably identified in academic research a long time before the company decided to produce it and see if it could be used as a treatment.

The drug did work in animal tests on pregnant animals but failed to work on born children. It was the couple who approached the doctor asking to try it during pregnancy already. The doctor and his university agreed to administer the drug under a “compassionate use” exemption.

The pharmaceutical company was not directly involved in this.

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.

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.

I don’t believe so. With genotyping costs continuing to rapidly fall, CRISPR, and other gene editing techniques, we’re going to continually improve on our ability to self-improve, “spell checking” errors out of our genomes if you will. There is great peril in us causing cascading anomolies that can be passed on genetically, but if we can master gene editing, we’re going to see incredible gains in quality of life for each future generation.

A sound strategy (IMHO) would be for humanity to target the most costly genetic anomalies and iterate from there, using cost savings to accelerate the process.

This is already happening: See rates of C Sections.

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

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.

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

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.

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

Wow this is amazing but scary like GATTACA the movie.

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?)

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