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.
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”
I’ve always had a passing interest in this subject. Will be cool to know how folks are systemizing this field
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.
The problem is figuring out how to pay for such things to begin with.
I've left human biology and returned to model organisms because the experiments allow for much less ambiguity.
In the United States today, approximately 1 in every 27 Jews is a Tay-Sachs carrier.
https://healthresearchfunding.org/17-good-statistics-tay-sac...
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.
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.
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.
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.
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.
I agreed with a reply to that suggesting such an extreme and unnuanced statement amounted to eugenics since the only means to actually ensure that no child will ever be born with X genetic disease would require rather extreme measures that go far beyond providing testing and options.
I really shouldn't smoke. I don't endorse SS officers killing me if I do.
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.
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.
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.
That said I expect that in the future, for many genetically inherited diseases, parents will be given the option to address the problem without termination, so long as the solution seems to be exceptionally safe and highly effective (IE, 99.999% confidence the outcome will be positive). I don't think people will see that as "eugenics", although there have been a few press campaigns that have done so.
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.
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?
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.”
Traced back to a single particularly fecund Jewish ancestor I believe.
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...
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?
That’s not clear. In the past Tay-Sachs was prevented mostly by pre-marriage genetic counseling.
Fortunate! That's very fortunate!
> rational eugenics
No such thing unless your basis for it is incomplete or corrupted.
You could say this counts as Eugenics, but maybe people just need a different word since Eugenics is so tainted.
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.
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.