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 Peter Fish (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 Pei-Jui Ye (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)
Living with inflammatory bowel disease: The patient and family view Sarah Brown – CICRA
We are excited to announce that BPSGHAN and BAPEN are jointly hosting the Intestinal Failure Networking Day in Newcastle on Monday 4th November 2024. This event is designed to improve knowledge and skills in the management of complex nutrition and intestinal failure (IF) in children, targeting consultants, trainees, and allied healthcare professionals.
We are delighted to be joined by an impressive line-up of speakers from different centres. The programme features a blend of practical management strategies and showcases current research into genomics and the gut microbiome in intestinal failure and the day will conclude with a joint session with BAPEN Medical, discussing topics of shared interest.
Registration Fee from £10.00 per member trainee including refreshments, lunch and VAT.
We also encourage trainees and others to submit their abstracts for oral or poster presentations. Deadline for submissions: 15thSeptember 2024.
20 Travel Bursaries up to £100 are available for Trainees and AHP’s on a first come first served basis to apply please complete the online form.
Note:
Travel Bursaries are only available to Trainee and AHP BSPGHAN members who register for the IF Networking Day on Monday 4thNovember and proof of registration will be required if the application is successful.
Travel will be reimbursed after the event on completion of the Claims Form with appropriate receipts.
Transforming the care of patients with complex inflammatory bowel disease.
Genomic analysis is a foundation of precision medicine. With a better understanding of the molecular causes of inflammatory bowel diseases (IBD) and enteropathies there are therapeutic opportunities. Increasingly there is realisation of a spectrum of disease where multifactorial and polygenic Crohn’s disease, ulcerative colitis, and IBD unclassified, is complemented by monogenic conditions that can present with intestinal inflammation. For those exceptionally rare monogenic conditions, the NHS has commissioned genomic testing. The diagnostic challenge is to select those patients who might benefit from genomic medicine, to interpret the genetic results, validate the findings and select evidence-based treatments.The successful implementation and progression of clinical genomics requires multi-disciplinary care, specialist knowledge and establishment of professional networks. The monogenic IBD grand round series, aims to discuss diagnostics and clinical care for patients with suspected or confirmed monogenic IBD supporting practical implementation of clinical genomics in paediatric and adult IBD.
Aim is to discuss genetics, immunology, endoscopy, histology, and treatment of complex patients challenging mIBD patients where a clear learning objective is achieved or a national specialist input might be helpful (England, Scotland, Wales, NI). Themonogenic IBD grand round is a clinical and educational forum to bridge and support ongoing multi-disciplinary care discussions and specialised clinics in each region.
Audience: Paediatric and adult gastroenterologists, immunologists, geneticists, SHO and registrars / trainees.
Name of the presenter and co-presenter and hospital:
Patient history background (all strictly anonymised)
Patient phenotype (including age of IBD onset, extraintestinal manifestations, previous/current treatments):
Family history: Genetic investigations and genotype: Immunological tests and key results: Discussion, recommendation for patient care and key questions:
3-4 presentations will be selected. This is an opportunity to present for trainees and receive mentoring from specialists in the field.
