Inflammatory bowel disease (IBD) is a multifactorial condition. In a small percentage of all patients, the disease can be explained by a monogenic background. NHS genomic testing is available for this group of patients and the aim is for their delineation to provide important insights for patients and their families as well as stimulating research into underlying mechanisms in IBD. Utilising clinical genomics successfully in IBD will help to personalise treatments which require multi-disciplinary care, specialist knowledge and the establishment of novel support networks.
This workshop will discuss how clinical genomics can inform clinical care for individuals with monogenic IBD. It is
targeted at paediatric and adult gastroenterologists, trainees, nurse specialists and any other speciality interested in monogenic IBD.
Introduction: Prof Holm Uhlig and Prof Anneke Lucassen (University of Oxford)
Monogenic IBD- Clinical care pathways in the UK: Dr James Ashton (University of Southampton)
What is needed for decision making- Functional validation of genetic variants: Dr Kimberly Gilmour (GOSH)
Screening 33000 adults with inflammatory bowel disease: Dr Rofaida Desoki (University of Cambridge)
Application of artificial intelligence to diagnose monogenic inflammatory bowel disease in primary care: Dr Calum Grant (Mendelian)
Predictive genetics – concepts and ethics: Prof Anneke Lucassen (University of Oxford)
Emerging technologies in genomics: Prof Sarah Ennis (University of Southampton)
A therapeutic atlas for monogenic IBD: Dr Pai-Jui Yeh (University of Oxford)
Establishing therapeutic outcomes in mIBD from healthcare utilisation: Dr James Charlesworth (University of Oxford)
Case discussions and research projects
NFKB1 deficiency and intestinal inflammation: Dr Kelsey Jones (GOSH, London and Kennedy Institute, Oxford)
Hermansky Pudlak syndrome 2 and inflammatory bowel syndrome: Dr Jochen Kammermeier (University College London)
Cytokine biology –rare variants and fundamental biology: Dr Nima Gharahdaghi (University of Oxford)
CD55 deficiency: Dr Wolfram Haller (Birmingham Children’s Hospital)
Living with inflammatory bowel disease: The patient and family view
The patient organisations invited
Sarah Brown CICRA
CCUK
CGD society
XLP research trust
