4 ms·

I have an extremely rare autosomal dominant subtype of a certain genetic disorder that affects maybe less than a few thousand individuals at any one time in the

I have an extremely rare autosomal dominant subtype of a certain genetic disorder that affects maybe less than a few thousand individuals at any one time in the USA. Much common versions of the disorder that affect children have been successfully treated/cured with gene therapy. However gene treatment unlikely to ever reach people like me because so few are affected by it, it's not viable commercially. It's extremely frustrating and I struggle with tremendous feelings of anger about it, but I can't really do anything short of become a billionaire and fund my own treatment. Such is the state of medicine for profit, I guess.

baggy_trough 1y ago
Wouldn't the same problem occur with any system that has to prioritize resources (that is, any realistic system)?
- outworlder 1y ago
  Maybe not. Because such as system, by design, would have to create a lot of common, shared infrastructure. Once you have centralized the ability to edit genes, most of that machinery can be repurposed for less 'profitable' endeavors. A very crude comparison would be time sharing a radiotelescope. If you want to build one to run school experiments, it's prohibitive. But once you have one, you can use any spare capacity to allow for observations that would be impossible to justify economically.
  - baggy_trough 1y ago
    Isn't that happening already, through progression in gene technologies?
  - MichaelZuo 1y ago
    Yeah humans can setup a radiotelescope time-sharing system. But chimpanzees can’t, regardless of how much effort they put in. So a time-sharing system 1 million times more complex cannot be created by people who are probably not even 1000x smarter than an average chimp.
colechristensen 1y ago
One of the sort of strange things about gene therapy is how cheap a custom solution really is. You can arbitrarily genetically modify a plant or bacteria for a few hundred dollars to the level of arbitrarily picking the letters of a gene sequence (or you know, doing some research and doing something real) and getting the gene modifying tools manufactured very very cheaply. If you have a slightly different form of a much more common ailment, there probably is good hope that eventually patient specific gene therapy for you will be something of a routine. You may be taking extra risks because of the lack of available research, but I'm sure any patient can become well informed enough to make the choice for themselves. I'm not saying it's commonplace or anything yet, but the tools are there or almost there to fix a slightly incorrect single gene issue (like a single point deletion or letter swap, etc). Like just look https://www.idtdna.com/pages/products/crispr-genome-editing/alt-r-crispr-cas9-system https://www.idtdna.com/pages/products/crispr-genome-editing/... obviously this is for research and not in vivo human treatment which takes quite a bit more care and specifics to target whatever tissues / organs / whatever is broken in you... but the reagents for doing custom sequence edits are priced for research in the hundreds of dollars. sure once an established research program finished and got approved they'd spend tens or hundreds of millions and charge each patient millions but it's not insane to imagine a biohacker curing you in their garage for $5,000 while only maybe killing you Given that, I think there's a lot of hope that custom gene therapy will become commonplace and relatively affordable.
- rubidium 1y ago
  You’ve taken a very small slice of the total workflow to develop cas9 crispr edits. Yes some components are “not crazy expensive”, but that’s not therapeutic production levels. And no sequencing. And no bioinformatics. And then zero tissue targeting/ delivery or safety studies. So $5k is a massive stretch. I do think costs are coming down. But don’t want to oversell current state of “garage hacking” either.
  - colechristensen 1y ago
    Sequencing all of the interesting parts of the human genome is $300-$400 and a few weeks wait. The bioinformatics to find a simple mutation and design a crispr fix or one of the other gene therapy methods is about 1 grad student week. I am talking about garage hacking and there sure are a bunch of risks and chances of ineffective treatments, but researchers used to take a lot more risks and I can see folks with degenerative, terminal, or otherwise very severe conditions being happy to say fuck it let's try something. And with an appetite for risk and a fuck it attitude, you can try something for less than the cost of a used toyota. And as mainstream treatments develop, custom gene editing as a fully safe therapy option is going to become common.
southernplaces7 1y ago
But in all seriousness, who would you direct your anger at in this case? For one thing, being angry in a general sense implies that a fortuitous blend of circumstances is owed to you by the world in a broad sense so that your specific, completely accidental (of nature) misfortune can be remedied. Secondly, many people suffer from much more common conditions that also have no remedy so far (i'm an example of such), and this doesn't mean that it's the fault of any system or person in particular. It's more the case that there are so many multitudes of types of suffering that could be made better in our world, and only limited, incremental resources for going after any number of them over time. Given that, it's obvious that many causes of suffering, including illnesses, will be left wanting at any given time without it necessarily being something that you could fairly fault human agency for.. I mean, do you really believe that in some realistic alternative system of organizing society, your specific, extremely rare condition would have already been addressed, or have had more of a chance of being addressed than under what exists now in the world? Sorry for elaborating so much in this comment, but the complaint you make is one i've frequently seen and for the reasons above it has never seemed entirely logical to me.
- itake 1y ago
  I think they are angry because a solution is available but not accessible. People are gatekeeping resources that would enable access to treatment because for big companies, spending $1 to earn $1 isn’t a sustainable business model.
  - southernplaces7 1y ago
    My understanding of the comment wasn't that. It was that a solution for his adult version hasn't yet been developed because it's not commercially viable to do so due to its rarity. This of course brings me right back to the points I made in my own comment above. Resources are scarce, and commercial viability, or at least resource viability for all the effort of development, is a factor under any system you choose to look at. There are just so many priorities out there and we all know this. We can't compare the world of our ideal vision of how it should be with what's the case. We need to compare what's the case with what's realistic, and with was previously the case, and how it has changed, either for better or worse. If on the other hand, a solution for his problem does exist and is simply not available, I don't see how that makes sense. Why wouldn't it be sold if it were available?

baggy_trough 1y ago

Wouldn't the same problem occur with any system that has to prioritize resources (that is, any realistic system)?

outworlder 1y ago
Maybe not. Because such as system, by design, would have to create a lot of common, shared infrastructure. Once you have centralized the ability to edit genes, most of that machinery can be repurposed for less 'profitable' endeavors. A very crude comparison would be time sharing a radiotelescope. If you want to build one to run school experiments, it's prohibitive. But once you have one, you can use any spare capacity to allow for observations that would be impossible to justify economically.
- baggy_trough 1y ago
  Isn't that happening already, through progression in gene technologies?
- MichaelZuo 1y ago
  Yeah humans can setup a radiotelescope time-sharing system. But chimpanzees can’t, regardless of how much effort they put in. So a time-sharing system 1 million times more complex cannot be created by people who are probably not even 1000x smarter than an average chimp.

colechristensen 1y ago

One of the sort of strange things about gene therapy is how cheap a custom solution really is. You can arbitrarily genetically modify a plant or bacteria for a few hundred dollars to the level of arbitrarily picking the letters of a gene sequence (or you know, doing some research and doing something real) and getting the gene modifying tools manufactured very very cheaply. If you have a slightly different form of a much more common ailment, there probably is good hope that eventually patient specific gene therapy for you will be something of a routine. You may be taking extra risks because of the lack of available research, but I'm sure any patient can become well informed enough to make the choice for themselves. I'm not saying it's commonplace or anything yet, but the tools are there or almost there to fix a slightly incorrect single gene issue (like a single point deletion or letter swap, etc). Like just look https://www.idtdna.com/pages/products/crispr-genome-editing/alt-r-crispr-cas9-system https://www.idtdna.com/pages/products/crispr-genome-editing/... obviously this is for research and not in vivo human treatment which takes quite a bit more care and specifics to target whatever tissues / organs / whatever is broken in you... but the reagents for doing custom sequence edits are priced for research in the hundreds of dollars. sure once an established research program finished and got approved they'd spend tens or hundreds of millions and charge each patient millions but it's not insane to imagine a biohacker curing you in their garage for $5,000 while only maybe killing you Given that, I think there's a lot of hope that custom gene therapy will become commonplace and relatively affordable.

rubidium 1y ago
You’ve taken a very small slice of the total workflow to develop cas9 crispr edits. Yes some components are “not crazy expensive”, but that’s not therapeutic production levels. And no sequencing. And no bioinformatics. And then zero tissue targeting/ delivery or safety studies. So $5k is a massive stretch. I do think costs are coming down. But don’t want to oversell current state of “garage hacking” either.
- colechristensen 1y ago
  Sequencing all of the interesting parts of the human genome is $300-$400 and a few weeks wait. The bioinformatics to find a simple mutation and design a crispr fix or one of the other gene therapy methods is about 1 grad student week. I am talking about garage hacking and there sure are a bunch of risks and chances of ineffective treatments, but researchers used to take a lot more risks and I can see folks with degenerative, terminal, or otherwise very severe conditions being happy to say fuck it let's try something. And with an appetite for risk and a fuck it attitude, you can try something for less than the cost of a used toyota. And as mainstream treatments develop, custom gene editing as a fully safe therapy option is going to become common.

southernplaces7 1y ago

But in all seriousness, who would you direct your anger at in this case? For one thing, being angry in a general sense implies that a fortuitous blend of circumstances is owed to you by the world in a broad sense so that your specific, completely accidental (of nature) misfortune can be remedied. Secondly, many people suffer from much more common conditions that also have no remedy so far (i'm an example of such), and this doesn't mean that it's the fault of any system or person in particular. It's more the case that there are so many multitudes of types of suffering that could be made better in our world, and only limited, incremental resources for going after any number of them over time. Given that, it's obvious that many causes of suffering, including illnesses, will be left wanting at any given time without it necessarily being something that you could fairly fault human agency for.. I mean, do you really believe that in some realistic alternative system of organizing society, your specific, extremely rare condition would have already been addressed, or have had more of a chance of being addressed than under what exists now in the world? Sorry for elaborating so much in this comment, but the complaint you make is one i've frequently seen and for the reasons above it has never seemed entirely logical to me.

itake 1y ago
I think they are angry because a solution is available but not accessible. People are gatekeeping resources that would enable access to treatment because for big companies, spending $1 to earn $1 isn’t a sustainable business model.
- southernplaces7 1y ago
  My understanding of the comment wasn't that. It was that a solution for his adult version hasn't yet been developed because it's not commercially viable to do so due to its rarity. This of course brings me right back to the points I made in my own comment above. Resources are scarce, and commercial viability, or at least resource viability for all the effort of development, is a factor under any system you choose to look at. There are just so many priorities out there and we all know this. We can't compare the world of our ideal vision of how it should be with what's the case. We need to compare what's the case with what's realistic, and with was previously the case, and how it has changed, either for better or worse. If on the other hand, a solution for his problem does exist and is simply not available, I don't see how that makes sense. Why wouldn't it be sold if it were available?