KJ Muldoon became the first patient to undergo personalized CRISPR treatment, a therapy that found the one uniquely mutated gene out of 20,000 in his little body, and fixed it.

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.

    • Scubus@sh.itjust.worksEnglish
      4·
      2 months ago

      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”?

      1. Fair enough

      2. … 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

      3. 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.

        • Scubus@sh.itjust.worksEnglish
          3·
          2 months ago

          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

            • Scubus@sh.itjust.worksEnglish
              2·
              2 months ago

              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.

                • Scubus@sh.itjust.worksEnglish
                  1·
                  2 months ago

                  Oh wow, great resources. I finally had the chance to reread through the articles and that study, and thats absurdly exciting!

                  It’s crazy that the story about the chinese doctor partially played a role in getting the fda to sign off on that. I can’t wait for more research into miostatin and whether it’s truly a safe gene to edit.

                  Also thats where a lot of my fear comes in for these projects. Obv gene editing is a massively useful tool, and for “fixing” genes its pretty safe, but what I want to see is crazy “unnatural” edits, so long as they’re safe. It’s just difficult to research these edits in depth because historically there hasnt really been a legal route to research these edits afaik