Soon after KJ Muldoon was born in the summer of 2024, he was diagnosed with a rare genetic disorder that is fatal for about half the infants who are born with it.
Until now, the only effective long-term treatment for the rare metabolic disease known as severe Carbamoyl Phosphate Synthetase 1 deficiency, or CPS1, had been a liver transplant.
Instead, doctors at the Children’s Hospital of Philadelphia told KJ’s family they could try something never done before. They would use a technology known as CRISPR, a personalized gene-editing therapy, to find the one uniquely mutated gene out of 20,000 in his little body, and fix it.
He became the first known patient in the world to be treated using CRISPR personalized just for him, according to a news release from Penn Medicine. His case was published Thursday in the New England Journal of Medicine.
If i could edit my genes to be immortal you bet your ass i would. Saving this kid thats already born from dying in a coin flip seems like the least of peoples worries. Lets just see if any super serious side effects occur so we can find a different cure in the future if the need arises.
To someone who is knows more: how does this differ both biologically and ethically from the chinese doctor who used crispr to edit two twins in order to make them less suspectible to HIV? Just curious what the communities take is
I mean, just off the top of the dome, we know the following three things -
- This child was already alive
- This child had a 50/50 chance of death
- Everyone involved consented to the procedure
These stories share almost no similarities, biologically or ethically.
Edit - this is good faith scientific discussion, with info on somatic cell gene therapy below! The main difference is germline (hereditary) editting and somatic (body) editting. They legally edit living humans’ bodies, not embryos or cells capable of complete human reproduction!
I don’t have an agenda, but the post states that it is the first case of personalized human gene editing. Was the chinese doctor’s not “personalized”?
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Fair enough
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… fair enough? It would seem that its either good or bad and the odds of death being high shouldn’t effect whether it’s a good or bad idea. If i misunderstanding lmk
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From my understanding, thats not really the issue. Humanity has decided that gene editing is not to be fucked with, have we not? I used to study gene editing and from everything I read and heard it would be universally illegal for me to edit an embryo and then implant it under any circumstances. Has that changed? Did I misunderstand in the first place?
I’ve always been very pro gene editing, but I want to to be approached as safely as possible. I’d prefer for it to only be done on consenting adults, and in such a way that any altered genes are non contagious and non hereditary. I guess I do kinda have a dog in this race, but only insofar as I don’t want rogue scientists bringing negative press to a positive tool, or the resulting damage to life those rogue scientists can do.
- You’re missing risk/reward calculations. In healthcare it’s not about whether something’s “good” or “bad”, it’s about whether rewards outweigh risks for the individual.
- Consent is consent, and the existence of a law against a practice - even an otherwise ethical practice - does not waive the ethical need for consent. Doctors have been known to practice against local laws - abortion, euthanasia, gender-affirmation, etc. There are scenarios where healthcare can be ethical and illegal, but only with consent.
Both very good points. I didn’t mean to portray it as though consent was unimportant here, but I meant that even with consent I figured airing this would result in this doctors medical license being revoked. Did he get the consent (sorry) of the medical community?
Edit:also still curious about this being the “first” case
Oh! Understood.
This is not the first time somatic gene therapy has been successfully performed, and it does indeed get the consent of the FDA! In the link is a different treatment, similar principle.
I’m sorry, I should have realized this was what you were asking about!
The #1 from the beginning was way more biologically and legally important than it might have seemed at first - the child was already alive.
The key difference between the two cases is germline vs somatic.
Germline editting is what occurred with the twin embryos. The germline is your hereditary/genetic line - reproductive cells and embryonic stem cells. This involves permanently altering the evolutionary path of humanity, at least for your offspring and descendants. (Fun fact - on a long enough time scale, any given human eventually becomes either ancestor to all, or ancestor to none. So a germline edit could literally change all of humanity!)
Editting the germline is generally still illegal, and arguably for very good reason, at least at humanity’s current stage of science and social ethics.
Somatic gene editting is altering the DNA in somatic cells, which have already differentiated and specialized. This is almost all of the normal cells in your body. These cells can
often(e: occasionally) reproduce more cells, but generally cannot ever produce different cells. Your bone marrow can never create a neuron, for example. An embryonic stem cell can create anything.In this case, the gene therapy targets only the liver cells and makes the needed change. Unlike germline therapy, somatic therapy like this shouldn’t affect anything in the body other than the liver. Which was already busted to begin with, which obviously decides the risk/reward calculation.
The “personalization” is from editting the child’s cells and DNA directly. It looks like past treatments involved editting immune cells outside the body and transfusing them into the patient. I presume those were someone else’s immune cells. People trade them all the time with blood transfusions.
So this is a pretty exciting development! But yeah, very different cases biologically speaking, not just ethically.
And rereading your past comment, this is exactly what you were talking about. So sorry I missed that. This is, in fact, non hereditary, non contagious gene editting!
Ah yes, exactly the insights I was hoping for! I studied that back in high school, so it was a bit difficult to recall the terminology. I’m going to reread the article, but with that in mind if we now have the technology to safely apply crispr in body that is awesome! I recall it uses an engineered retrovirus to deliver the “payload” so im curious how they targeted it.
I’m having trouble finding more information on this particular treatment, so I can’t be certain this is the same methodology but I did find what seems like a great comprehensive source on genome editting that may explain it.
Liver is the most favored target organ for genome editing owing to its ability to regenerate. The regenerative capacity of the liver enables ex vivo gene editing in which the mutated gene in hepatocytes isolated from the animal model of genetic disease is repaired. The edited hepatocytes are injected back into the animal to mitigate the disease.
Basically, they may have taken liver cells out, editted them, and put them back into the body, presumably without any of the DNA editting delivery mechanism that was used to do the edit. Those cells then incorporate into the liver and continue making more of themselves while producing the enzymes the patient needs.
The liver is weird and awesome.
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Hey, your new baby has a high chance of dying, I’d say a coin flip, but i know how hard this might be for you. Luckily, for just $1,999,999* (rounded down) we can go in there and fix it for you. No pressure, but your kid is gonna die. Seriously, no pressure, but its highly recommended so you dont kill your child.
I mean the alternative was a liver transplant, and I have no idea how an infant liver transplant would even work. The only way doctors and researchers were ethically going to be able to treat someone with CRISPR is exactly this kind of situation
Organ transplants for infants typically come from other infants. The ones that have organs to spare are the ones that are functionally dead for other reasons. I used to work at a children’s hospital in the ER and I’ve seen multiple infants end up brain dead from trauma and someone had to ask the family if they would donate their child’s organs to save other children.
There are valid reasons to not use certain procedures, but price is not one of them. If we stopped researching medical science just because treatments are expensive at first, we would never have made it this far. It just takes time (and regulating the greedy companies) to make stuff cheaper.
regulating the greedy companies
and how is that going for us?
if current reality is any indication, price will be inflated on purpose to pad executive pockets and thats cruel as fuck.
Only in the US.
I’m sure this is just a way of coping with the awful system in USA, but tone indicators help others understand
