Bowel disease breakthrough as researchers make ‘holy grail’ discovery

Researchers have discovered a major driver of inflammatory bowel disease (IBD) and several other immune disorders that affect the spine, liver and arteries, raising hopes for millions of people worldwide.( )

The breakthrough is particularly exciting because the newly found biological pathway can be targeted by drugs that are already used, with work under way to adapt them to patients with IBD and other conditions.( )

“What we have found is one of the very central pathways that goes wrong when people get inflammatory bowel disease and this has been something of a holy grail,” said Dr James Lee, the group leader of the genetic mechanisms of disease laboratory at the Francis Crick Institute in London.( )

Lee added: “Even for pure, fundamental immunology this is a really exciting discovery. But to show this is dysregulated in people who get disease not only gives us a better understanding of the disease, it tells us this is something we can treat.”

More than half a million people in the UK have inflammatory bowel disease, the two main forms of which are Crohn’s disease and ulcerative colitis, with at least 7 million affected globally. They arise when the immune system attacks the bowel, causing an array of debilitating symptoms from abdominal pain and weight loss to diarrhoea and blood in stools. While medicines such as steroids can ease the symptoms, some patients require surgery to remove part of their bowel.( )

Lee’s research team “stumbled” on the discovery after investigating a “gene desert”, a stretch of DNA on chromosome 21 that does not code for proteins, which has previously been linked to IBD and other autoimmune diseases. Writing in Nature, they describe how they found a section of DNA that behaves like a volume control for nearby genes. This “enhancer” was seen only in immune cells called macrophages where it boosted a gene called ETS2 and ramped up the risk of IBD.

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