Scientists have discovered a cause of inflammatory bowel disease. They said it’s a ‘holy grail’ discovery that could transform treatments.

The underlying pathway for inflammatory bowel disease had previously been poorly understood, making it difficult to find treatments.

The researchers found answers by exploring a “gene desert,” which is an area empty of protein-coding genes that were once thought to be unimportant but make up as much as 25% of the human genome.

Within the gene desert, the researchers said they discovered a section of DNA termed an “enhancer,” so-called because it can turn up the volume on other genes.

The enhancer was active in specific immune cells called macrophages, the study said, previously known to be important for inflammatory bowel disorders. It also appeared to influence a gene called ETS2, a risk factor in IBD.

“Using genetics as a starting point, we’ve uncovered a pathway that appears to play a major role in IBD and other inflammatory diseases,” James Lee, a clinical scientist at University College London, a consultant gastroenterologist at the Royal Free Hospital, and a senior author of the paper, told The Guardian.

Plus, Lee said, an existing class of drugs may be able to halt the process and treat the disease. The discovery is a “holy grail” that offers major hope for a treatment, he told The Guardian.

“Excitingly, we’ve shown that this can be targeted therapeutically, and we’re now working on how to ensure this approach is safe and effective for treating people in the future,” Lee said in a press release.

Using this discovery to improve treatments

It’s one thing to identify the root of a mysterious disease. It’s another to put that knowledge into practice.

With the help of genetic editing, Lee’s team was able to test the connection between the enhancer and IBD. It dialed up the ETS2 in macrophages in the lab, and sure enough, inflammation similar to that seen in patients with inflammatory bowel disease, the study said.

That’s important because it means that drugs could help interrupt the cycle to reduce inflammation and treat disease.

Previously, only a small percentage of drugs tested to treat conditions like inflammatory bowel disease were approved, in part because the causes were poorly understood.

Even better, the drugs needed to target this pathway might already be available: The researchers found a class of medications prescribed for other conditions helped “switch off” the culprit gene in both macrophages and gut samples from patients.

The next step in the research is fine-tuning how the drugs are delivered into the body to target specific cells and reduce side effects.

Conditions such as inflammatory bowel disease and Crohn’s disease affect almost 5% of the population, and there’s no cure.

Understanding the biological pathways that underlie these diseases could also help researchers fight inflammatory conditions like autoimmune disorders, too.

“IBD and other autoimmune conditions are really complex, with multiple genetic and environmental risk factors, so to find one of the central pathways, and show how this can be switched off with an existing drug, is a massive step forward,” Christina Stankey, a Ph.D. student at the Francis Crick Institute and first author of the paper, said in a press release.

The findings were published Wednesday in Nature.