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British Society of Paediatric Gastroenterology, Hepatology and Nutrition

3rd Oxford workshop on Monogenic inflammatory bowel disease – Clinical genomics from diagnosis to precision therapies

Fri 25 Oct 2024 9:00 AM - 4:30 PM

Tsuzuki Lecture Theatre, St Anne's College, Oxford, OX2 6HS

Please register at: https://www.tickettailor.com/events/cpmoxford/1389600

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

PEGHAN Virtual Study Day

PeGHAN group holds half a day of study every year. These are geared for clinicians (consultants/trainees/SAS/GPs/resident doctors) and AHP.

We aim to cover common themes that are faced by clinicians in a busy district general hospital with varying resource availability. This study day is on Fabricated Illness with GI theme.

We are fortunate to have Dr Anna Piggot, Consultant Gastroenterologist at Royal Stoke Hospital, Dr Helen Morris, Consultant Paediatrician at Birmingham Children’s Hospital and Dr Shashwat Saran, Community Paediatrician at University Hospital Hartlepool.

3 cases on similar themes will be presented by trainees/ PeGHAN consultants. This will be 10 min long slot. Abstract submission is now closed.

Download the programme

  • Date: 18th October 2024
  • Time: 12:00 - 17:00
  • Platform: Zoom
  • RCPCH CPD applied for
  • Registration is must
  • Free for trainees
  • Certificate of attendance/presentation will be given on receiving feedback form
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