Central and South Genomic Medicine Service Alliance

25/04/2023 In Oxford

Clinical Genomics in Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) can be caused by monogenic conditions. For those
exceptionally rare conditions, the NHS has commissioned genomic testing in specific patient
groups. The successful implementation and progression of clinical genomics for IBD requires
multi-disciplinary care, specialist knowledge and establishment of networks. Within this
workshop, hosted by the monogenic IBD team from the Central and South Genomic Medicine
Service Alliance, we aim to discuss clinical care for these patients, practical implementation
of clinical genomics and discuss specific monogenic cases. This workshop is targeted at
paediatric gastroenterologists, trainees, nurse specialists and adult gastroenterologists.

• Introduction Holm Uhlig, Oxford
• Monogenic IBD in the UK – Ana Martinez Pereira, London
• Genetic and genomic sequencing techniques in the NHS – Daniella Iancu,
  Southampton
• Monogenic IBD – Clinical genomics UK guideline for children and adults –
  Jochen Kammermeier, London, and Chris Lamb, Newcastle
• Clinical MDT network Southampton James Ashton, Southampton
• Clinical MDT network Birmingham Wolfram Haller, Birmingham
• Clinical genomics MDT – Kimberly Gilmour, London
• The monogenic IBD MDT – Lessons from the Transformational Project -Round
  table discussion – Moderators James Ashton and Rafeeq Muhammed, Tracy
  Coelho
• Inborn errors of Immunity – Sophie Hambleton, Newcastle
  Case discussions and research projects
• Large scale sequencing in the UK IBD BioResource – from research into
  clinical practice Rofaida Desoki, Cambridge
• Role of NFKB signalling for intestinal inflammation Kelsey Jones, London
• New sequencing technologies Alex Noble, Oxford
• Small bowel inflammatory enteropathies – Tania Bildstein, London
• XIAP deficiency and inflammatory bowel disease – impact on a patient and
  health care costs Philip Allan, Oxford
  Patient organisation representation Crohn’s & Colitis UK, CGD society, XLP research trust