Action Research Training Fellow Dr James Ashton has developed genetic testing which is helping diagnose and treat more children with Crohn’s disease. Results from this research project have helped to inform new guidelines on genomic testing for people with a rare type of Crohn’s or Colitis. Dr Ashton’s research team have worked with clinical genetics doctors to set up a clinic in 2022 where they are using this new genetic information to benefit patients. Currently around 100 children diagnosed with inflammatory bowel disease each year in the UK are benefiting from the new testing, and this is likely to increase as it is more widely adopted over the whole of the UK.
Crohn’s is the most common form of inflammatory bowel disease in children and sadly rates are increasing. Inflammation in the gut causes the symptoms, including diarrhoea, abdominal pain and tiredness, but it is unclear what triggers this. It is thought that a combination of genetic and environmental factors are involved.
Dr Ashton has improved understanding of what causes Crohn’s disease in children by using a technique called next generation sequencing to analyse patients’ genes. He has investigated how genes, the immune system and gut bacteria work and interact together.
He identified specific and new genetic changes in some affected children. Some of these changes were linked to specific symptoms and disease complications.
Dr Ashton and his team have investigated further one of the genes, NOD2, and are building a clinical tool to help doctors predict the risk of developing a potentially serious complication where parts of the intestine become narrowed.
Dr Ashton has also identified new genes and interactions between genes that appear to increase the risk of getting Crohn’s disease.
“Our findings are helping in the diagnosis and treatment of more children with Crohn’s disease and will enable doctors to use genetic information to personalise care for each patient,” says Dr Ashton.