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SickKids-led research uncovers new genetic cause of Crohn's disease | EurekAlert!
Scientists found BIRC3 gene changes that cause Crohn’s in some patients and showed those changes drive inflammation through the RIPK1/TNF pathway. That suggests a new, druggable pathway and may help predict who benefits from anti-TNF drugs or targeted therapies.
Researchers studying IBD genetics and immune pathways, clinicians caring for patients with early-onset or familial Crohn’s, and patients (or parents) interested in genetic causes of IBD and precision-medicine approaches.
What To Know
Researchers led by SickKids identified BIRC3 variants as a previously unknown monogenic cause of Crohn’s disease and mapped how those variants dysregulate the RIPK1/TNF pathway. The study combined genetics, RNA sequencing, proteomics, and animal models and reported 14 patients from 10 families with BIRC3 variants.
The team suggests this pathway could be druggable and may inform who responds to anti-TNF therapy. This appears to be a research report published in Gastroenterology and involved international collaborators and laboratory models (mouse and zebrafish).
It does not provide clinical treatment recommendations; rather it highlights a mechanistic discovery and the potential to match therapies to patients’ biology.
If validated in larger or more diverse patient groups, the findings could expand genetic testing for some adults and children with atypical or familial Crohn’s disease and support trials of RIPK1 inhibitors or pathway-targeted approaches. For now, this is an early precision-medicine advance pointing to future research and possible therapy stratification.
This is a genetic and mechanistic research study (Gastroenterology) with laboratory and animal-model evidence and a small set of human cases (14 patients). Findings suggest broader relevance but need further clinical validation and trial data before changing care.
