Researchers trace a form of lupus back to a single mutation
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Re: Researchers trace a form of lupus back to a single mutation
#2[flagged]
Re: Researchers trace a form of lupus back to a single mutation
#3[flagged]
Except that one time..
Re: Researchers trace a form of lupus back to a single mutation
#4So this means we can correct for this at the fetal stage now? Or possibly with CRISPR based gene replacement since it just one SNP.
Re: Researchers trace a form of lupus back to a single mutation
#5The report says the cause was identified as a single letter change for the case of one individual patient. I was hoping to read if they tested other lupus sufferers to see if this change was the cause for more than the one patient they identified. Don't get me wrong -- I'm sure I'm they're investigating exactly that, but I was hoping the article had some news on that front.
Re: Researchers trace a form of lupus back to a single mutation
#6So this means we can correct for this at the fetal stage now? Or possibly with CRISPR based gene replacement since it just one SNP.
The researchers are careful to not say that. (Remember the big uproar around LK-99 superconductors?)
To my lay eyes, it looks like they have excellent research showing a pathway used for the regulation of the "innate immune response," which is the fast-acting first response to pathogens. And they saw some strong evidence but not a sure proof that Lupus may be caused by the loss of regulation due to a mutation.
To show that it's more than a nice coincidence, I think they'd take careful steps: maybe a CRISPR therapy trial, maybe a drug trial specifically aiming to regulate this part of the immune system through other careful means. Lots of clinical trials.
To families affected by Lupus this might seem painfully slow. I'm optimistic though: this sounds like the kind of solid research to uncover the exact functioning of the human immune system.
Re: Researchers trace a form of lupus back to a single mutation
#7The report says the cause was identified as a single letter change for the case of one individual patient. I was hoping to read if they tested other lupus sufferers to see if this change was the cause for more than the one patient they identified. Don't get me wrong -- I'm sure I'm they're investigating exactly that, but I was hoping the article had some news on that front.
Yeah...this sounds great but, maybe, like before declaring "Lupus Trigger Discovered", we should have a sample size of more than 1.
Re: Researchers trace a form of lupus back to a single mutation
#8I wonder if there's a viral trigger to some of these mutations, similar to the way EBV is implicated in the development of MS. It would also be interesting to do a longitudinal study in families that tend toward autoimmunity evaluating infant DNA to DNA later in life if they develop lupus to see when the mutuation occurs: is it present at birth or acquired?
Re: Researchers trace a form of lupus back to a single mutation
#9[flagged]
ha
Re: Researchers trace a form of lupus back to a single mutation
#10I always wondered about Lupus. An ex-boss of mine was insanely into health. Had a yoga studio for years and only ate the healthiest food. He got Lupis at 55. The other interesting thing is that his dad lived until he was 110.