this post was submitted on 12 Nov 2024
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Similar to the meme... godamn did they fuck up by not holding geneticists to something close to... SOME standard naming.
Dated a maternal fetal medicine specialist. She'd come home being like "you ever have to explain to someone they have a mutation in the 'sonic the hedgehog' gene of their kid?!" If you're familiar with what it does in fruit flies (when it was named), it's fucking horrific in humans. Don't google it.
It does make more sense if you consider that it is part of a line of Hedgehog genes, all of which make Fruit fly embryos look like hedgehogs (spiky) if they're inactivated.
They didn't just go "Let's name a gene with bad outcomes if mutant in humans after a video game character! Yipee! Hooray!", at least not for that.
Though they did name SHH's inhibitor Robotnikin.
Oh I get how it got that way, it's just unfortunate what that lead to in a clinical setting.
Is that the R34 sonic mutation?
It might be? I forget exactly what it is in humans, I just remember the pictures I was shown. Midline disorders are nightmare fuel.
Drag has been diagnosed with disorders that are just named after some guy, and it was boring. The kids who get told they have Sonic Hedgehog mutation are lucky. If all of our disorders had fun names, then it wouldn't be taboo.
A SHH mutation is generally not considered compatible with life. So it's less the kids who'd find out, and more the parents.
"Sonic Hedgehog killed my child" is a way better story than measles or leukemia. In terms of parents of dead children, those parents have it the best.
That's a way cool name!