Scientists have found a major driver of inflammatory bowel disease (IBD) and many other immune diseases affecting the spine, liver and arteries.
The new discovery raises hopes for millions of people worldwide, reported The Guardian.
The breakthrough finding has been regarded as particularly exciting as the newly discovered biological pathway can be targeted by drugs that are already used.
Moreover, work is under way to adapt them to patients with IBD and other medical 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, who is the group leader of the genetic mechanisms of disease laboratory at the Francis Crick Institute in London.
“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,” he added.
In the United Kingdom, more than half a million people have inflammatory bowel disease. Its two main forms are Crohn’s disease and ulcerative colitis, and at least 7 million people are affected by this globally.
Causing an array of debilitating symptoms from abdominal pain and weight loss to diarrhoea and blood in stools, they take place when the immune system targets the bowel.
Some patients need surgery to remove part of their bowel despite the presence of medicines such as steroids that can ease the symptoms.
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One of the mutations was also seen in another severe case from British Columbia, Canada