IBD is a chronic condition that mainly affects the gut, though it can also involve other organs. It causes symptoms such as diarrhoea and abdominal pain, and its prevalence is increasing. Current projections suggest that by 2030, around 1% of the UK population will be living with IBD.
One of the major challenges in treating IBD is its complexity. The condition varies widely between individuals: symptoms differ, treatments work better for some people than others, and the trajectory of the disease is often difficult to predict.
Traditionally, IBD has been divided into 2 main diagnoses: Crohn’s disease and ulcerative colitis. However, the team’s research has shown that this classification does not fully capture the complexity of the condition.
Over the past 15 years, their study has recruited more than 2,000 adults and children with IBD to explore how genetic and environmental factors interact in IBD.
When the research began, its focus was on using emerging genetic science to better understand genetic factors that either increase risk or cause disease across patient groups.
Over time, this focus has evolved. Rather than identifying risk alone or mechanisms of disease, the team is now able to pinpoint exact genetic causes of disease in specific individuals.
As part of the study, each participant undergoes a genetic analysis known as whole exome sequencing, which allows researchers to identify genetic changes linked to the inflammation. This information is then combined with the patient’s medical records, which the team are increasingly using AI to extract and standardise information from blood tests, biopsy results, and previous treatments.
By bringing these data, the team can begin to explain an individual has developed IBD and select treatments that are best suited to their specific form of the disease. This personalised approach is a major step forward, allowing patients to receive more accurate and effective care.
The impact of this work can be seen through the experience of one participant, Greg:
“At the start of last year, James reached out with an opportunity to explore my genetic profile and potentially identify some underlying genetic causes. After reviewing my results, James explained what they had found, which was later confirmed by a blood test. Thanks to that work, I’m now due to begin a new treatment plan next week.”
“The biggest impact for me has been mental. Having clarity about where my illness comes from has given me peace of mind, and knowing I have a clear plan moving forward is really reassuring.”