Using genetics to tackle Inflammatory Bowel Disease
The causes of Inflammatory bowel disease (IBD) remain unclear. Our research has linked symptoms to genetic changes, advancing knowledge and individuals’ care.
IBD is a limiting, sometimes debilitating and even life-threatening, condition. Symptoms include stomach cramps, bloating, diarrhoea, weight loss and extreme tiredness.
We’re analysing genetic and clinical data from over 2,500 IBD patients and their families.
This has allowed us to identify changes in the gene NOD2, and show an associated 10-fold higher need for intestinal surgery in these patients.
Taking a personalised approach
IBD includes Crohn’s disease and ulcerative colitis. It is a limiting, sometimes debilitating and even life-threatening, condition. Symptoms include stomach cramps, bloating, diarrhoea, weight loss and extreme tiredness.
Our work with IBD patients has led us to the view that despite their common symptoms, underlying causes varied.
We saw that unpicking these factors case-by-case would improve diagnoses and individuals’ care - an approach that could apply to a wide range of other, similar conditions.
Combining genetic and clinical data
Over 2,500 patients and their families are helping us do this. They’ve given consent to DNA analysis of blood samples and use of clinical details. That allows us to map symptoms onto genetic changes.
In 2020, we pinpointed specific DNA changes in over 7% of Crohn’s disease patients. Affecting the NOD2 bacterial-sensing gene, this was the genetic root of their symptoms.
We also identified a 10-fold higher risk of needing intestinal surgery (published here). This allowed these patients and their clinical teams to better track and manage symptoms.
We now hold regular meetings with Southampton clinical colleagues to share our findings. The first of their kind for IBD in the NHS, these bring together paediatric, gastroenterology and genetics teams.
To aid wider clinical awareness and use of genetics, we have launched an online resource. This ‘Primer in Genomic Medicine’ explains medical genomics to healthcare staff.
Using automation and machine learning
We have worked hard with BRC data colleagues to collect routine patient data automatically. That includes updates to patients’ body measurements, blood test results and surgical history.
Reducing paperwork and research nurse time, this has given new insights into IBD. It has seen a patient’s need for surgery become a key measure of effective care for a range of research studies.
We are now adding detail through data from other technologies (e.g. measures of gene products and metabolism). We are also describing life impacts by linking to social data like school attendance.
Collaborating with BRC data colleagues, we are using machine learning to study these complex data (published here and here). These computer programs learn as they work, spotting patterns faster.