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About

Janneke M. Stapelbroek is a leading researcher in pediatric gastroenterology and epithelial cell biology, whose work has fundamentally advanced the understanding of congenital diarrheal disorders. Her most influential contribution is the landmark 2014 study, "Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease," which has garnered 174 citations. This work identified Syntaxin 3 as a critical protein for the proper formation and function of microvilli on intestinal epithelial cells, directly linking its deficiency to a severe, life-threatening form of microvillus inclusion disease (MVID). By pinpointing this genetic cause, Stapelbroek not only clarified the molecular pathology of a previously enigmatic variant of MVID but also provided a crucial diagnostic marker and a potential therapeutic target. Her research bridges fundamental cell biology—specifically the mechanisms of vesicle trafficking and membrane fusion—with clinical pediatric disease. Through her precise, impactful studies, Stapelbroek has become a key figure in understanding how defects in the enterocyte’s apical membrane lead to devastating intestinal failure, offering hope for improved diagnosis and future treatments for affected infants.