science

They found a weak spot in our DNA that is present in 95% of people with the disease. It makes it much easier for some immune cells to go haywire and drive excessive inflammation in the bowels. The team have found drugs that already exist seem to reverse the disease in laboratory experiments and are now aiming for human trials.

It's the woman in the thumbnail, isn't it? She's been causing it?

Five bucks says this will be more useful than for just IBD.

It was her all along!

A disease-associated gene desert directs macrophage inflammation through ETS2 https://www.nature.com/articles/s41586-024-07501-1

Abstract

Increasing rates of autoimmune and inflammatory disease present a burgeoning threat to human health1. This is compounded by the limited efficacy of available treatments1 and high failure rates during drug development2, highlighting an urgent need to better understand disease mechanisms. Here we show how functional genomics could address this challenge. By investigating an intergenic haplotype on chr21q22—which has been independently linked to inflammatory bowel disease, ankylosing spondylitis, primary sclerosing cholangitis and Takayasu’s arteritis3,4,5,6—we identify that the causal gene, ETS2, is a central regulator of human inflammatory macrophages and delineate the shared disease mechanism that amplifies ETS2 expression. Genes regulated by ETS2 were prominently expressed in diseased tissues and more enriched for inflammatory bowel disease GWAS hits than most previously described pathways. Overexpressing ETS2 in resting macrophages reproduced the inflammatory state observed in chr21q22-associated diseases, with upregulation of multiple drug targets, including TNF and IL-23. Using a database of cellular signatures7, we identified drugs that might modulate this pathway and validated the potent anti-inflammatory activity of one class of small molecules in vitro and ex vivo. Together, this illustrates the power of functional genomics, applied directly in primary human cells, to identify immune-mediated disease mechanisms and potential therapeutic opportunities.

*A major cause of inflammatory bowel disease (IBD) has been discovered by UK scientists.

They found a weak spot in our DNA that is present in 95% of people with the disease.

It makes it much easier for some immune cells to go haywire and drive excessive inflammation in the bowels.*

This kind of discovery is really cool to hear about.

But the impatient part of my brain really hates to read stuff like "hoping to start human trials within five years". Gotta be careful and do it right and all that. But my monkey brain wants that Star Trek medicine now where I go in with literally anything and almost all of it is curable and a lot of it with only some sort of non-evasive tool while I am young enough to benefit from it.

Misread it as "Major case" and wondered why she was so happy about it.

but how do I fix it, explained in dum dum level english?

I love her surname "Golightly"

As someone with IBS, I've kept an eye on potential remedies or cures for years, and while I'd love to be supportive of this, I'm skeptical that it will actually amount to something until human trials are effective and treatment actually starts to roll out.

So it's a gene that causes the immune system to overreact, but what is it overreacting to?

Thank god for these scientists!