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
An exciting 2 day hands on, interactive motility course at Evelina Hospital will be held on 11-12 July 2024. The course will be focused on PH Impedance, Oesophageal and Anorectal Manometry, EGG and EndoFLIP. Participants can choose to attend one or both days.
Date: 17-20 October 2024 Location: Vienna & Online
From world-class networking opportunities and learning new best practices to acquiring a global perspective of the current state of paediatrics, this congress provides state-of-the-art knowledge and connections that will transform not only your career but the field globally.
INAC is geared to address practical problems in Neonatology with a global lens, engaging delegates from all over the world who participate in scientific deliberations about important topics in Neonatology. This unique forum facilitates global networking amongst neonatologists, perinatologists, paediatricians, nurses, nurse practitioners and respiratory therapists who participate in preconference workshops and scientific sessions.
The Nutrition team at Chelsea and Westminster Hospital would like to cordially invite all interested health professionals to a national intestinal rehabilitation (UK – Joint Intestinal Rehabilitation Meeting; JIRM) meeting discussing difficult paediatric intestinal failure patients. The meeting is organised on Tuesday 27th February 2024, 12:30 -14:00 hrs GMT via Microsoft Teams link.
To register for this meeting please email with your name, place of work and position to: caw-tr.cwpaedshpn@nhs.net
After registering, you will receive a confirmation email containing information and links to join the meeting.
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.
