6 ms·

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 tha

by bckr 5y ago

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.

ch4s3 5y ago
They would die otherwise, painfully I might add. Gene therapy is posed to be a revolution that makes antibiotics look like band aids.
- dekhn 5y ago
  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 5y ago
    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.
chaostheory 5y ago
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”
- jostmey 5y ago
  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 5y ago
    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.
- monkeycantype 5y ago
  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
  - mountainriver 5y ago
    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?
  - ahevia 5y ago
    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 5y ago
      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/ 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/sequencing/next-generation-sequencing.html 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 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.
DaveExeter 5y ago
These two children should have never been born. No one should be born with Tay-Sachs, a genetic disease.
- Kye 5y ago
  Eugenics has a somewhat fraught past. Everyone who tried it thought they were doing their victims a favor.
  - DoreenMichele 5y ago
    ^ This. In the United States today, approximately 1 in every 27 Jews is a Tay-Sachs carrier. https://healthresearchfunding.org/17-good-statistics-tay-sachs-disease/ https://healthresearchfunding.org/17-good-statistics-tay-sac...
    - Kye 5y ago
      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 5y ago
        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 5y ago
        > 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.

by bckr 5y ago

ch4s3 5y ago

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

dekhn 5y ago
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 5y ago
  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.

chaostheory 5y ago

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”

jostmey 5y ago
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 5y ago
  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.
monkeycantype 5y ago
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
- mountainriver 5y ago
  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?
- ahevia 5y ago
  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 5y ago
    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/ 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/sequencing/next-generation-sequencing.html 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 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.

DaveExeter 5y ago

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

Kye 5y ago
Eugenics has a somewhat fraught past. Everyone who tried it thought they were doing their victims a favor.
- DoreenMichele 5y ago
  ^ This. In the United States today, approximately 1 in every 27 Jews is a Tay-Sachs carrier. https://healthresearchfunding.org/17-good-statistics-tay-sachs-disease/ https://healthresearchfunding.org/17-good-statistics-tay-sac...
  - Kye 5y ago
    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 5y ago
      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 5y ago
        > 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.