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.
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
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