An illustration of Crohn’s disease
Symptoms of IBD, whose two most common types are Crohn’s disease, illustrated here, and ulcerative colitis, include cramps, diarrhoea and blood in stools © SPL/Alamy

Gene scientists have identified a cancer drug as a potential treatment for a debilitating bowel condition, in the latest boost to expanding efforts to target problem illnesses with existing medicines.  

Researchers uncovered a new biological pathway for inflammatory bowel disease (IBD) by exploring a so-called gene desert — a genome region that has no genes coding for production of proteins, the building blocks of life.

The findings highlight growing interest in gene deserts because of their apparent role in stoking various disease risks. They offer the potential to tackle a rising global IBD caseload.

The research, undertaken by scientists at the UK’s Francis Crick Institute, UCL and Imperial College London and published in Nature on Wednesday, looked at IBD and related conditions. It underscores how expanding knowledge of the genetic and biochemical bases of illnesses promises to unlock unexpected new therapies.  

“You’ve got something that’s fundamentally biologically important for human health, in a region of the genome that we don’t understand,” said Dr James Lee, a Crick laboratory group leader and consultant gastroenterologist at London’s Royal Free Hospital and UCL.

“The potential for actually figuring that out is that you may end up uncovering a completely new way of treating a disease,” he added.

Image of an inflammatory liver disease
Image of an inflammatory liver disease, which often occurs at the same time as IBD © Christina Stankey

Symptoms of IBD, whose two most common types are Crohn’s disease and ulcerative colitis, include cramps, diarrhoea and blood in stools. It is often diagnosed in people under 35 and existing drugs to treat the chronic condition are of limited effectiveness.

Although its causes are still uncertain, IBD affects millions of people worldwide and its growing prevalence will require “concerted efforts in disease prevention and healthcare delivery innovations”, according to a paper in Nature Reviews Gastroenterology & Hepatology.

A study by Nottingham university funded by Crohn’s & Colitis UK showed that more than half a million people were living with IBD in Britain in 2022, a large rise on previous estimates of 300,000.

The latest research into the role of the gene desert in IBD focused on an “enhancer”, a DNA segment that controls the amount of proteins nearby genes make. The enhancer boosted a gene called ETS2, which stokes inflammatory activity in macrophages, immune cells known to be involved in IBD.

The scientists’ search for a potential treatment focused on a group of drugs known as MEK inhibitors, which are used for treatment of cancers including melanoma and neurofibroma. The researchers found these medicines lowered inflammation in both macrophages and gut samples from IBD patients.  

The MEK inhibitors would still have to undergo clinical trials to prove their efficacy for IBD, Lee noted. Potential side-effects from the drugs, such as vomiting and hypertension, would also have to be taken into account.

Medical charities welcomed the discovery, noting that many people with IBD ended up needing surgery.

“We still don’t fully understand what causes IBD so these findings, which shed new light on disease development as well as a potential way to treat it, are exciting,” said Georgia Sturt, research and grants manager at Bowel Research UK, which was not involved in the work.

A recent survey by the Korean Association for the Study of Intestinal Diseases showed that 47 per cent of respondents felt IBD had negatively affected their income, while 46 per cent said they were exposed to workplace discrimination.

The redeployment of existing approved drugs offer financial as well as health advantages, since the fundamental research and proof of safety for patients have already been done.

In April, researchers in the decades-old quest to slow Parkinson’s disease reported that patients who took the diabetes drug lixisenatide saw no worsening of their motor symptoms after a one-year trial.

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