[bckr]

This is incredibly moving. It can feel like there's no good news in the world, and that techno-optimism isn't founded.

But these 2 kids are a lot healthier than than they would have been without this incredible invention. This is the kind of stuff we can hold on to.

Thanks for sharing.

[chaostheory]

It’s good news, but it doesn’t mean that there still aren’t more challenges to overcome.

I think the article ends on a really important note:

“The increasing cost of manufacturing these treatments makes it extremely difficult, if not impossible, to develop and test gene therapy for many ultrarare diseases where the number of patients worldwide is very small and profitability low.

We were able to deliver these treatments to the children in our ongoing clinical trials thanks only to funding from a generous family whose own child is a participant”

[monkeycantype]

I'm not an expert, but I've started a biomedical science degree, and - struggling for the right word here - the 'systemisation' of the tools for genetic engineering is astonishing. There's a revolution happening here, not just in the cutting edge tools, but also in the streamlining and automation of workflow, I find it hard to believe custom genetic treatments are going to stay expensive for long

[ahevia]

Can you share where the uneducated can learn more about these advancements?

I’ve always had a passing interest in this subject. Will be cool to know how folks are systemizing this field

[monkeycantype]

I'm one of the uneducated and I enrolled in a biomedical science degree.

As I said i'm not an expert, just a first year student getting my mind blown.

But in my classes, we look at catalogs of genetic vectors:

here's a top google hit https://en.vectorbuilder.com/

These vectors contain a number of indicator genes, such as antibiotic resistance, so you can use the antibiotic to kill the bacteria that didn't take up your vector.

The vectors have a prepared insertion site to take your gene, that's right in the middle of another gene that produces a colored product.

If the your resultant bacteria produces the colored product, you know you gene didn't make it into the insertion site or it would have broken that gene.

There's vast catalogues of this stuff.

Then when you want to do full genetic sequence to see where your gene has inserted, that's pretty much automated for you.

https://www.thermofisher.com/au/en/home/life-science/sequenc...

You want to compare the genetic sequence to other organisms, there are online search engines for that:

https://blast.ncbi.nlm.nih.gov/Blast.cgi

If your experience is anything like mine, once you start searching for this, google ads is going to lure you into the rabbit hole with offers to 'automate your agrigenomic high throughput whole sequence workflow' and 'rapid de novo genome assembly'

Some of the stuff google is trying to sell me, seems only slightly more non-fictional than 'mystery flesh pit national park', which is of course a searchable phrase.

[mountainriver]

This is what I was hoping to hear, commoditizing all of the tools would be a huge benefit, I guess on the flip side is could make bioengineering of deadly things easier?

[jostmey]

Many exciting new biotechnologies are incredibly expensive like gene therapy, T cell therapy, or some other radical life-saving therapy. Regulations are one factor driving up costs, as well as the manufacturing costs. It is not easy and really annoying when people think it is overpriced

[DoreenMichele]

When you compare such to current costs of conventional treatment, it's often not that bad. That's before you factor in pain, suffering and lost productivity of the patient and their caregivers.

The problem is figuring out how to pay for such things to begin with.

[ch4s3]

They would die otherwise, painfully I might add. Gene therapy is posed to be a revolution that makes antibiotics look like band aids.

[dekhn]

It was posed to be a revolution when I started my career, some 30 or so years ago. The pace is glacial. There is no systematic way to deal with this; nearly every disease has its own details, and individuals differ so many treatments have to be personalized. Many of the changes we make, we don't really know how or why they work.

I've left human biology and returned to model organisms because the experiments allow for much less ambiguity.

[ch4s3]

Yeah it seems like that was the norm in the past, but it’s looking like CRISPR and it’s successors are shaped to change that. As long as the set of relevant genes is small, and in a small enough number of cells it should be possible to scale up. Genetic degenerative diseases of the eye, sickle cell, and similar show a lot of promise.

[DaveExeter]

These two children should have never been born. No one should be born with Tay-Sachs, a genetic disease.

[Kye]

Eugenics has a somewhat fraught past. Everyone who tried it thought they were doing their victims a favor.

[dragonwriter]

> Eugenics has a somewhat fraught past.

That's...an understatement.

> Everyone who tried it thought they were doing their victims a favor.

No, not everyone who did it thought that they were doing their victims a favor. Quite a lot saw their victims as people who ought to be sacrificed for the good of others, and if they thought they were doing them a favor it was only in not murdering them outright as well as preventing them from reproducing.

Of course, some eugenics practitioners didn't bother avoiding outright murder, e.g., the Nazis.

[Kye]

This is a bit of a tangent off me pointing out someone's suggestion was eugenics. I'm not sure what I'm supposed to take away from this comment. We obviously can't read the minds of eugenics pushers, and very few openly admit their True Aims, so there's not any point trying to litigate it here.

[DoreenMichele]

^ This.

In the United States today, approximately 1 in every 27 Jews is a Tay-Sachs carrier.

https://healthresearchfunding.org/17-good-statistics-tay-sac...

[dogma1138]

Israel performs pre and post conception screenings for TS and a few other genetic diseases that are common within the Jewish population.

Just calling every genetic screening designed to prevent actual suffering eugenics is pretty nonsensical.

[ars]

Not just Israel - most Jews everywhere will use the screening. If two people are both carriers they suggest they don't marry, normally the screening is checked after the first date.

And regarding eugenics they only screen for diseases that require two carriers, because such a person can marry someone who is not a carrier. Diseases that manifest with a single copy of the gene are specifically not screened for because there's nothing the person can do in that case.

[DoreenMichele]

Just calling every genetic screening designed to prevent actual suffering eugenics is pretty nonsensical.

It's also putting words in my mouth since I said no such thing.

[dogma1138]

Apologies then just your reply seemed to indicate that you were agreeing with these screenings and the termination that follows them being eugenics.

My litmus test for eugenics requires an ideological and social engineering component.

Simply telling parents well if you bring a child to the world they’ll die within 2 years and suffer greatly isn’t that. Neither is offering them other tools such as using a sperm or egg donor or adoption.

[zionic]

> Just calling every genetic screening designed to prevent actual suffering eugenics is pretty nonsensical.

It’s also not wrong, if we’re being totally honest.

Things are either eu (beneficial) or dys (harmful) genic.

The bottom 75% of the IQ curve has been poisoned against the word “eugenics” to the point that they can’t even have a basic conversation about things as sane as “genetic screening for debilitating illness” without completely breaking down.

[DoreenMichele]

The bottom 75% of the IQ curve has been poisoned against the word “eugenics” to the point that they can’t even have a basic conversation about things as sane as “genetic screening for debilitating illness” without completely breaking down.

This is a really not good way to engage with this topic. I'm not happy seeing this kind of framing on HN of what is an extremely sensitive topic for many people and with good reason.

[Kye]

I had no idea. I just used my "wait, no, that's eugenics" heuristic. Now I know!

One day it's "we should save these kids from a difficult life," the next it's "we need symbols to tell undesirables apart," the next it's "we have too many people in camps and nowhere to send them." People like me ended up in those camps next to the Jews, so I'm not keen on the noise that starts the landslide.

[ethbr0]

There's an unfortunate truth that proponents of equality are going to have to deal with at some point: we are biologically different, to greater or lesser degrees.

That's a fact. And it's only going to be more of a fact the deeper we dig into our genetic code.

But it's how we respond to and deal with that that determines whether we commit good or evil.

[zionic]

> that proponents of equality are going to have to deal with

We both know that will never happen. They’ll never “deal with” the flaws in their religion, they’ll just ignore it like all the others do.

[seo-speedwagon]

1. Tay-Sachs is not limited to a single ethnicity. Carriers exist in the population in general.

2. Assuming you’re referring to the fact that being a carrier is more common in Ashkenazi Jews, you’re aware that there are a number of genetic screening programs run by Jewish organizations, right?

[disabled]

Dude, there are people who have children with Tay-Sachs, who are NOT ethnically Jewish at all. 1 in 250 people in the general population is a carrier for Tay-Sachs.

Also, literally everyone is a carrier of mutations for extremely devastating diseases. You just do not know which ones.

This is from a US government website covering Tay-Sachs (https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease):

“While anyone can be a carrier of Tay-Sachs, the incidence of the disease is significantly higher among people of eastern European (Ashkenazi) Jewish descent. Approximately one in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene. Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs. For the general population, about one in 250 people are carriers.”

[stefan_]

I don't understand, the parent said nothing about Jews at all. Nonetheless, given the incidence among them, they also happen to be pioneers in prescreening for this very genetic defect.

[tasha0663]

Yeah, that's weird. Either the association is so strong with some people that they can't see Tay-Sachs without immediately thinking Ashkenazi, or there was a stealth edit to the comment.

[DaveExeter]

No stealth edit!

Genetic testing can identify carriers, so if Tay-Sachs has been (mostly) 'vanquished' from the Ashkenazi community, it can be 'vanquished' completely.

https://www.nytimes.com/2003/02/18/science/using-genetic-tes...

[bradleyjg]

Non-Jewish French Canadians living near the St. Lawrence River and in the Cajun community of Louisiana also have a higher incidence of Tay-Sachs.

Traced back to a single particularly fecund Jewish ancestor I believe.

[zionic]

Um I’m sorry but what the fuck is this comment?

The OP’s point was clearly (to me) that genetic diseases like this should be eliminated at the embryo stage.

What does you going all “Jews” have to do with anything?

[pyuser583]

> The OP’s point was clearly (to me) that genetic diseases like this should be eliminated at the embryo stage.

That’s not clear. In the past Tay-Sachs was prevented mostly by pre-marriage genetic counseling.

[nootropicat]

You're right, but socially and organizationally it's more practical to fix the problem via gene therapy rather than institute compulsory abortions after a genetic test. Unfortunately due to the barbarity of Nazi Germany even rational eugenics programs are taboo in the West, and trying to fight that is a losing battle.

[dekhn]

Um, US has its own sad history of eugenics (predating Nazi germany) that was unfortunately tied very closely to the mainstream scientific establishment. https://www.cshl.edu/archives/institutional-collections/euge... This included advocating for "sterilization of defectives".

And of course we mustn't forget the reaction to He Jiankui, who claims to have created the first permanently modified humans, and the response in China was to jail him and fine him. It's not just the West.

Gene therapy done in a medical setting where society has had a chance to understand what's going on isn't really eugenics, or is a form that isn't "bad". It's different from "sterilize the defectives" and "X people are Yer then Z people", especially because the people doing this have consulted extensively with bioethical experts and have also subjected their plans to scrutiny by the larger society.

[tasha0663]

> Unfortunately... rational eugenics programs are taboo in the West

Fortunate! That's very fortunate!

> rational eugenics

No such thing unless your basis for it is incomplete or corrupted.

[BuyMyBitcoins]

Voluntary screening of prospective parents for genetic disorders doesn’t seem malicious to me. Especially if they already know they are at high risk. If my partner and I realized we would have a child with an inherited burden, we’d probably adopt instead.

You could say this counts as Eugenics, but maybe people just need a different word since Eugenics is so tainted.

[tsol]

Then you get into more difficult discussions. Like what constitutes a "inherited burden? Down syndrome? Is it okay to develop policies where few to no people with down syndrome will exist? How about autism? Can we get rid of people who might be liable to get depression, or just be really short? There is so much to screening for genetics, and not simply because the word eugenics is tainted.

[dekhn]

I'd leave these questions to the biomedical community, as they have the ability to deal with nuanced questions like this. Given the amount of different behavior covered by autism, it doesn't seem useful to use that as an example.

I think if there was a test for Down's syndrome and a gene therapy cure, that would almost certainly be deployed, and advocates for people with Down's aren't going to have a big problem with that. People learned from the autism speaks debacle.