Baby Is Healed With World's First Personalized Gene-Editing Treatment (nytimes.com) 52
Scientists have successfully treated a 9.5-month-old boy with an ultra-rare genetic disorder using the world's first personalized gene-editing therapy. The patient, identified as KJ, has CPS1 deficiency -- a condition affecting just one in 1.3 million babies that prevents proper ammonia processing and is often fatal.
The breakthrough treatment, detailed in the New England Journal of Medicine, uses base editing technology to correct KJ's specific DNA mutation. The therapy delivers CRISPR components wrapped in fatty lipid molecules that protect them in the bloodstream until they reach liver cells, where they make the precise edit needed.
After three infusions, KJ now eats normal amounts of protein and has maintained stable ammonia levels even through viral illnesses that would typically cause dangerous spikes. His weight has increased from the 7th to 40th percentile. Dr. Peter Marks, former FDA official, called the approach "one of the most potentially transformational technologies" because it could be rapidly adapted for thousands of other rare genetic diseases without lengthy development cycles.
The breakthrough treatment, detailed in the New England Journal of Medicine, uses base editing technology to correct KJ's specific DNA mutation. The therapy delivers CRISPR components wrapped in fatty lipid molecules that protect them in the bloodstream until they reach liver cells, where they make the precise edit needed.
After three infusions, KJ now eats normal amounts of protein and has maintained stable ammonia levels even through viral illnesses that would typically cause dangerous spikes. His weight has increased from the 7th to 40th percentile. Dr. Peter Marks, former FDA official, called the approach "one of the most potentially transformational technologies" because it could be rapidly adapted for thousands of other rare genetic diseases without lengthy development cycles.
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The fact we can even conceive the ethics of this, the fact Darwin was able to conceive the theory spits in his own face. Consciousness and ability to craft tools and all the other things we get from our big fat cerebral cortexes breaks natural selection, to a strong degree at least.
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Yeah it's pretty goddamned wild but the potential is just fantastic, it's a matter of humanity being able to decide what responsible use looks like and how we can ensure it is used that way. Cat's out of the bag though so the time to make those decisions is right now.
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Oh didn't notice who i was or how you changed the title before i replied or i wouldn't have
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All humans are still subject to natural selection. Natural selection works better the fewer things it has to select for, right? Like if all a population cared about was having six fingers, then that trait would become pretty common after enough generations, even though it's a very rare trait.
When you eliminate something like "heavily resistant to malaria" from the selection criteria (or just reduce the pressure in favor of it), you get to select for other things. You also get to experience less of any side
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Uh no. Evolution gave us a brain and tool usage ability, our destiny is to utilize those to the max which in turn will give our species a better overall survival chance. A lion doesn't sit there saying, if I use my powerful claws I'd be giving myself an unfair advantage. Basic logic, not to mention morality, dictates that the more gene defects we can fix as a society, the better. Why? Because this baby may have had a bad liver gene, but maybe he also has genes for fast muscle twitch, brain-power, or leaders
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Basic logic, not to mention morality, dictates that the more gene defects we can fix as a society, the better.
I disagree with the OP entirely; and I agree with your overall conclusions, but this particular premise jumped out at me as needing a lot more explanation to be acceptable (probably too much for a comment section). I wouldn't consider your position to be basic logic. I would suggest this statement presumes a general acceptance of a particular kind of morality that you subscribe to (the details of which are of course not available to those of reading this and therefore we can't know if we agree with you [tho
Re: that's just great (Score:2)
That's a typically ignorant take. Darwin said the fittest. Your species instituting care for the disadvantaged is an increase in fitness.
Re: that's just great (Score:3)
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Fair!
But doesn't, I think, detract from the point.
Many species' successes depend on parenting.
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Many species' successes depend on parenting.
True enough, but I would go a step further and say that "grandparenting" is the ticket. There are many social species where individuals take turns at watching over the group's children, but there are very few that take collectivism to the next step. Learning from parents is great, but learning from grandma while mum and dad are out finding food is better.
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The phrase "survival of the fittest" originated from Herbert Spencer, not Charles Darwin. Darwin used it in later editions, but he didn't come up with it.
Did he not endorse the concept, though?
Re:that's just great (Score:5, Insightful)
Proudly! You spit in Darwin's face every time you turn on a light bulb or a hot water tap or a car engine or cell phone. Do it early, do it often.
Darwin described how things are, not how you want them to be.
Re: that's just great (Score:2)
I would mod this up if I could.
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We're pretty much spitting in Darwin's face here
Absolutely, and it's wonderful!
In past eons of evolution, organisms figured out how to survive through lots of trial and error. The "fittest" survived.
We are now exercising our own mental abilities to increase our own fitness to survive. This is 100% wonderful news.
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We're pretty much spitting in Darwin's face here. This baby was unfit to live, so now we are both doing genetic experiments on people who can't consent AND we're polluting the population with demonstrably unfit people. Wonderful.
We started playing God, or spitting in Darwin's face as you choose, the first time we took out a diseased appendix before it burst. Feel free to die horribly the natural way while the rest of us get treated for our diseases.
FDA can do better (Score:3)
So looking at the timeline, diagnosis was right after birth .. then it took about 6 months of FDA requirements bullshit before the treatment could be administered. And yes that makes a big difference, the earlier you give it the larger percent of the liver cells can be corrected .. and in the case of other treatments if we have delays like that downstream damage could be avoided. I don't necessarily disagree with the FDA requirements bullshit for this case since it's a very first, but we need future gene or base editor treatments to be deployable much faster.
Give them more money and more staff (Score:2)
You can't just let people randomly do shit to babies. There are a lot of quacks out there and some of them don't even know they're quacks.
We have been cutting the government back non-stop every chance we get for 50 years.
There isn't very much waste in our government relative to how wasteful human beings are just at a base level. There is a lot of corruption but you have been trained to think of the
Re: Give them more money and more staff (Score:3)
The understaffing is caused by the bureaucracy. The AMA has lobbied to make it harder to become a doctor in ways that do not matter for anyone but ER doctors, in order to keep the supply of doctors lower than the demand, to preserve income levels for its members.
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The understaffing is caused by the bureaucracy. The AMA has lobbied to make it harder to become a doctor in ways that do not matter for anyone but ER doctors, in order to keep the supply of doctors lower than the demand, to preserve income levels for its members.
It's not the money as much as the prestige. It's one of the worst aspects of doctor-culture, this idea that only MD's are competent to decide things. If you've ever listened to a doctor rail nurses about getting uppity and "you're not doctors, after all", you'd know what I mean. It really chaps the AMA's ass to see the growth of things like Nurse Practitioners. Every expansion of non-MD authority and responsibility in medicine has always been opposed by the AMA. When the concept of paramedics was first floa
Re: FDA can do better (Score:2)
An early gene therapy test quickly killed the patient because it introduced a change that was incompatible with life.
It's easy to look back at this success and say "it worked, so we shouldn't have waited" but you only know that it worked AFTER you test it and see the results.
Most tests do not produce the desired results. That's just a fact of life in the development of novel therapies. Getting to this point required a lot of trial and error. Those errors would have harmed patients if we hadn't been very car
By the Emperor. (Score:1)
Cat girls? (Score:2)
Dude, have you thought that one through?
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Yes. Yes we have [fandom.com].
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Girls already have pussies.
How soon 'till we do this by default? (Score:2)
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That's like saying doctors shouldn't be allowed to perform surgeries because that is like we've legalized stabbing people. At some point doctors may use surgery as a legal method to stab someone?
There is a thing called medical school, and a physicians board .. if a condition isn't worthy of surgery they wouldn't be allowed to do it. There's a code of conduct that must be adhered to, that the profession has agreed to abide by.
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I'm referring to mandated gene editing for everyone
Why would they mandate something that costs money and isn't a public health concern?
to root out "diseases"
We have enough actual disorders that need addressing that any perceived defects are so far it's absurd. It will be a very long time before we have the understanding to prevent the common neurological disorders. What you are saying may become a serious concern in 500 to 1000 years when we actually have the technology and understanding to even make the kind of alterations you imply. It will be a very different world then and w
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How soon 'till we do this by default?
When the risk becomes negligible and the cost becomes affordable even for the impoverished.
The film Gattaca may not be so crazy.
I disagree. The problem is that "genetic superiority" is only half of the equation which is the very thing that the film Gattaca was pointing out. Simply put, if you have the cognitive ability to get into a school with high standards then there is no need to validate your genetic disposition.
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and whether they can be mandated the same way as it was with other pharmaceutical products the last few years.
No pharmaceutical products have been mandated. Covid-19 shot requirements were by private businesses that had a legitimate reason for requiring it.
This is very much apples and oranges. You may not see it that way but a lot of people delude themselves to believe stupid shit all the time. You need only look at the Covid-19 conspiracies to recognize this fact.
I'm worried about cost (Score:3, Insightful)
If this is a "million dollars per patient" thing, that's going to be a problem. If it's a rarely-used treatment, that could very well be the case.
If the problem is common enough that the initial investment can be spread over millions of patients, it may still cause sticker shock but it won't be a bankruptcy-inducer for un(der)insured parents.
Great and unpopular question (Score:3)
How DO we decide? The UK's NICE offers a coherent framework - which allows politicians to pass the blame, until they realise some cancer treatments don't make the cut so they find an extra pot of money for some patients. Of course the classic formulation of this question is: 'If living forever cost $10m, should the rich be allowed to pay for their treatment?'
Re: I'm worried about cost (Score:1)
Early therapies are always staggeringly expensive on a per patient basis. But the number of patients will increase, and the tools for implementing the therapy will become more efficient and economical.
Spending millions to cure one patient was a step along the path. It was not the destination.
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Just think of a variant of this: Correcting type 1 diabetes.
That would be a big improvement of quality of life and it will just save money on the long run.
Yay! More people! (Score:2)
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Right, clearly we should stop all forms of medical practice. This would save the world tons of money, after all, and reduce population at the same time. While we're at it, let's quit trying to encourage people to eat healthy food and exercising. That only makes people live longer.
experimenting on your kids (Score:2)
You only experiment on your kids when there is no other path.
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Yeah I don't think this is something parents opt for out of curiosity or for fun.
Problems. (Score:2)
I'm all for helping people with genetic disorders but I can't help but wonder about the next generation. Does this mean that when he grows up that he's going to pass on this potentially fatal defect to someone else? It may seems small now but the problem becomes exponential when they have offspring of their own. Are we in the process of creating generations of people that need these specialized treatments for their entire life?
If the answer is yes then society needs to push to develop a self-replicating ver
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You're such a victim. The story is about you, not about people with genetic disorders, right?
What entitles you to decide if other people reproduce or what the consequences of that decision are? People already pass on genetic conditions to their offspring.
"I'm all for helping people with genetic disorders..."
I don't think you are.
"It may seems small now but the problem becomes exponential when they have offspring of their own. Are we in the process of creating generations of people that need these speciali
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My concern is for the people carrying genetic disorders that are otherwise fatal. Consider this a situation where there is a disruption in their ability to obtain the treatment they need to survive. Worse yet, what if someone pulls a Martin Shkreli and starts bleeding them for every cent? Do you want that for them?
I'm confused by your comment as I made it clear that we should be pushing harder to help these people. The only thing I can come up with is that you don't understand the pitfalls of this kind of g
Am I the only one... (Score:2)
... who thinks this is just plain fucking awesome? Ultra-modern, sci-fi medicine just saved this baby's life.
"After three infusions, KJ now eats normal amounts of protein and has maintained stable ammonia levels even through viral illnesses that would typically cause dangerous spikes. His weight has increased from the 7th to 40th percentile."
Thinking about if I had been watching my kids suffer through this. There's something in my eye.
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Absolutely, this is unadulterated good news.
Rare disease (Score:2)
I have a progressive muscular dystrophy that only 5000 ppl in America have. This sounds like something that could cure me. Would be nice. Hopefully Trump and the MAGA crowd don’t defund this or try to stop it.
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Whether he tries to stop it is entirely depends on who it hurts and what he stands to gain. Trump invested in ivermectin when COVID hit and then pushed it regardless of the damage it did to people. It doesn't matter who suffers or who dies, only what he gets out of it. What do you have to offer him?
Lipid Nano Particles are the Key (Score:1)
A key point of this article is lipid nanoparticles. It's likely that they utilized GalNAc-LNP (N-acetylgalactosamine lipid nanoparticles) for treating liver diseases. GalNAc-LNPs are notable for their capacity to deliver therapeutics directly to liver cells, leveraging the liver's inherent uptake mechanisms. While this isn't explicitly mentioned, it may be included in the redacted sections of the protocol. This targeted delivery system has the potential to greatly improve the effectiveness of treatments for