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
There is actually a tremendous amount of ongoing research into germline gene editting! GMO agricultural crops are the most obvious (and quite controversial, in large part because of corporations like Monsanto).
But you probably have heard the recent stories about the so-called “Dire Wolf”. Hank Green has an excellent video explaining that. But that is germline gene editting!
You should also look into actual de-extinction projects, like with the American Chestnut Tree.
The point is, we are doing germline gene editting research! But the human genome - and in fact almost all genomes - are ridiculously complex, and edits can have wildly unintended consequences that can persist for generations.
We can rip DNA apart and read every last molecule of nucleic acid. We can sequence it down to a complete and exact dataset of your entire existence. But we can’t completely map it structurally - epigenetics is the study of how the same DNA sequence can be twisted and knotted to behave differently at different times.
Even if we could map the whole shape of the epigenome - which is a remarkable challenge - we are quite far from actually decrypting that data and understanding it completely! It still wouldn’t tell us the complete story, because epigenetic changes can occur throughout an organism’s entire lifespan, some of them scheduled as part of development, some of them in response to environmental conditions like stress or starvation!
Most of our understanding of what DNA actually does comes from loss-of-function experiments, where we just destroy pieces of it and see what happens. There are also gain-of-function experiments, where we just add new pieces and see what happens. But the point is, until we actually do the experiment, we really don’t know for sure what’s going to happen.
There’s a lot of obvious reasons why that isn’t performed in humans, and arguably shouldn’t be for quite some time. The risks currently far outweigh the rewards, because we don’t yet have enough understanding to even quantify the risks or the rewards.
We can test on animal analogues like rats and chimpanzees, but we still have a lot of biological infrastructure that is entirely unique to humans. Our bipedal structure and oversized prefrontal cortexes make things quite complicated.
Advancements in epigenetic analysis, protein folding, and mRNA function will bring us dramatically closer, though! All promising avenues in which we are making leaps and bounds every decade. Or we were, but the US has unfortunately started dismantling its health sciences research and become actively hostile to universities.