Centre for Genomic & Experimental Medicine
Centre for Genomic & Experimental Medicine

Improving diagnosis and treatment for bowel disease patients

November 2016: DNA changes detected in blood samples could lead to the development of a simple diagnostic test for patients suffering from inflammatory bowel diseases.

Blood samples

An international team – coordinated by researchers in the Centre for Genomic and Experimental Medicine at the University of Edinburgh – have detected DNA changes in blood samples, paving the way for simple tests to aid diagnosis of patients suffering from inflammatory bowel diseases.

Inflammatory bowel diseases (IBD) are long-term conditions caused by inflammation of the gut which causes painful abdominal cramps, recurrent diarrhoea, weight loss and extreme tiredness. The same symptoms can occur in Crohn’s disease, ulcerative colitis and other bowel conditions, making it difficult for doctors to determine which illness a patient is suffering from. The diseases are currently diagnosed based on analysis of blood and stool samples, however an invasive endoscopy which requires hospitalisation, is usually required to confirm diagnosis.

The study, published today in Nature Communications, analysed DNA samples from 240 people newly diagnosed with IBD and found that chemical signatures in patients’ DNA (known as epigenetic changes) were different from those in healthy people. Identifying these chemical changes in the DNA of patients with IBD that could improve screening and diagnosis for these conditions, and also shed light on how the diseases develop and could reveal new approaches to treatments.

Experts say the findings could lead to a simple blood test to screen people who show symptoms of the diseases. People who do not have the signatures in their DNA could be spared further tests, which can be invasive and require hospital care. Results from the test could help doctors tailor therapies specifically for each patient, and can also reveal clues to a patient’s longer term prognosis, the team says.

Inflammatory bowel diseases are becoming more common worldwide with young people being particularly affected. In Scotland, rising cases among children are a major public health concern. We urgently need better understanding of how and why these diseases occur.”

Dr Nicholas VenthamResearch Fellow, Centre for Genomic and Experimental Medicine

Our findings bring fresh insights to the underlying causes of inflammatory bowel diseases, which could eventually lead to new treatments. Characterising epigenetic signatures in the DNA of patients could help us to devise better tests for diagnosing these diseases, so that patients can be given the best possible care.

Professor Jack SatsangiHead of Gastrointestinal Unit, Centre for Genomic and Experimental Medicine; and Consultant Physician, NHS Lothian, Western General Hospital

The study has been funded by the European Union FP7 grants: IBD-BIOMIBD-Character.


Related links

Journal article (doi:10.1038/ncomms13507)

Full news story from the University of Edinburgh