Landmark genetics study reaches 3,000 participants
Southampton researchers are driving new understanding of Inflammatory Bowel Disease through genetics.
Inflammatory Bowel Disease (IBD) affects half a million people in the UK. Cases are rising, especially in children and young people, yet the exact causes remain unclear.
The Genetics of IBD study began in 2010. Researchers are combining genetic and clinical data to uncover the causes of IBD.
Over 3,000 people have now joined the study at University Hospital Southampton.
Findings are helping patients and their clinical teams to better understand the cause of disease and use therapies more effectively.
Combining genetic and clinical data
Crohn’s disease and ulcerative colitis are the most common forms of IBD.
These disorders involve chronic inflammation of the digestive tract. Symptoms include stomach cramps, bloating, diarrhoea, weight loss and extreme tiredness.
Participants in the Genetics of IBD study provide blood samples for DNA analysis and consent to use of their clinical data. This has enabled researchers to map symptoms onto genetic changes.
Key discoveries to date include specific DNA changes in over 7% of patients with Crohn’s disease. Analysis showed that changes affecting the NOD2 bacterial-sensing gene are the genetic root of these patients’ disease.
The research team have also showed that patients with this genetic cause are ten times more likely to need intestinal surgery. Working alongside a pharmaceutical company, the team is helping to develop a gene-therapy treatment for NOD2-deficient Crohn’s disease. It could prove transformational for this group of patients.
The project is supported by the NIHR Southampton Biomedical Research Centre.
Professor Sarah Ennis, Professor of Genomics at the University of Southampton, leads the study. Prof Ennis said:
“Every patient who takes part in this study is helping us build a clearer picture of IBD. Understanding the genetic changes behind the disease is key to finding more effective treatments in the future.
“Thank you to everyone involved for helping us reach this significant milestone.”
The team are also pioneering the use of artificial intelligence to aid with analysis of data. Being able to quickly and accurately understand a patient’s clinical journey in a secure and responsible way is beginning to aid with moving genetic discoveries into clinical practice.
A new clinical pathway
A Paediatric Gastroenterology Genetics multidisciplinary team (MDT) was set up in 2022-23. It brings together specialists from Southampton, Oxford, Birmingham and Great Ormond Street Hospital.
The MDT discusses cases where a genetic cause of IBD is suspected or confirmed. This informs the best possible care and treatments.
New diagnoses of genetic disorders causing IBD have already been made in research patients. The team estimate around one in 500 patients recruited have an underlying genetic diagnosis. Moving these results back into the clinic enables personalised care and precise treatments.
Dr James Ashton is a Consultant Paediatric Gastroenterologist at Southampton Children’s Hospital. He is also an NIHR Advanced Fellow at the University of Southampton. Dr Ashton said:
“It is fantastic to have this service to support patients with IBD. This wouldn’t have been possible without research like the Genetics of IBD study, which continues to shape how we diagnose and treat the disease.”