FinnGen IBD Task Force access request
21.08.2024
FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants. Gene discovery in IBD has been particularly successful, with hundreds of common and dozens of rare coding variants conclusively identified. Further, specific functional description of variant effects has also advanced more rapidly than in most complex diseases owing to the accessibility of relevant tissues and immune cells in patients and controls. However, next to no insight has been gained that would indicate the relevance of any of this biology to disease progression, severity or therapeutic response owing to a lack of well-powered studies of such questions. FinnGen aims to fill this gap by bringing a depth of disease and therapeutic history information over decades that is not readily available in other large-scale biobank efforts. For this, we will utilise both pathology diagnosis codes and preserved tissue biopsy samples from IBD patients.
