Uhlig H.: monogenic IBD: diagnosis, treatment, transition

In 1990, Prof. Holm Uhlig entered the School of Medicine at the University of Leipzig – a city in Saxony with a long and turbulent history. The University, founded in 1409, had survived centuries of upheaval, including the Battle of Leipzig in 1813, when Napoleon’s forces were defeated and King Frederick Augustus I of Saxony was taken prisoner. Studying medicine in Leipzig during the 1990s meant navigating a period of significant transition following German reunification, yet Dr. Uhlig successfully completed his medical degree. Following his studies, he conducted research in paediatric immunology in Leipzig before spending three years at the Sir William Dunn School of Pathology in Oxford. He later returned to Leipzig to work in paediatrics from 2004 to 2010, then returned to Oxford, where he currently serves as Professor of Paediatric Gastroenterology and Director of the Centre for Human Genetics. Dr. Uhlig’s foundational work, completed during his first stay in Oxford, identified interleukin-23 as a key promoter of intestinal inflammation. This discovery has enabled the development of therapies targeting the alpha subunit of interleukin-23, modulating mucosal inflammatory activity. His team continues to unravel the complex pathophysiology of inflammatory bowel disease (IBD), using molecular-genetic analysis to identify monogenic contributions. Their ultimate goal is to develop genetics-based, patient-specific therapies. Dr. Uhlig suggests correlated reading (see below) and invites reflection on key questions: What is the genetic basis of inflammatory bowel disease? How can research in genetics and immunology improve patient care? What are the most exciting recent developments in the field? LiteratureBolton C et al. An integrated taxonomy for monogenic inflammatory bowel disease. Gastroenterology. 2022 Mar;162(3):859-876. doi: 10.1053/j.gastro.2021.11.014. Epub 2021 Nov 13. PMID: 34780721. PMCID: PMC7616885; erratum, Gastroenterology. 2022 Jun;162(7):2143. doi: 10.1053/j.gastro.2022.04.007. Epub 2022 Apr 11. PMID: 35421357Kammermeier J et al. Genomic diagnosis and care coordination for monogenic inflammatory bowel disease in children and adults: Consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition. Lancet Gastroenterol Hepatol. 2023 Mar;8(3):271-286. doi: 10.1016/S2468-1253(22)00337-5. Epub 2023 Jan 9. PMID: 36634696Griffin H et al. Neutralizing autoantibodies against interleukin-10 in inflammatory bowel disease. N Engl J Med. 2024 Aug 1;391(5):434-441. doi: 10.1056/NEJMoa2312302. PMID: 39083772. PMCID: PMC7616361 Prof Uhlig´s favourite song: J.S. Bach – Suite Nr. 1 für Violoncello Solo in G-Dur ESPGHAN favourite songs can be found on Spotify:https://open.spotify.com/playlist/0YIHKjxITLEm9XNyHyypTo