Ongoing Research Funded by DHF

Decoding the Genetics of Difficult-to-Treat Eosinophilic Esophagitis (EoE)

2024  | Disease: Eosinophilic Esophagitis (EoE)

Principal Researcher: Marie-Pier Tétreault, PhD

Principal Investigator: Marie-Pier Tetreault, PhD, Assistant Professor of Medicine (Gastroenterology and Hepatology), Northwestern Medicine, Northwestern Feinberg School of Medicine

A dangerous immune system condition that affects children and adults, eosinophilic esophagitis (EoE) occurs when allergic reactions inflame and scar the esophagus. The normally flexible esophagus, that connects the opening of the mouth down to the entry of the stomach, becomes stiff and unable to pass food and liquids down to the stomach. This leads to problems swallowing, heartburn, vomiting, pain, and malnutrition. Despite gains in treating EoE, many patients still have difficulties swallowing or they no longer respond to available therapies.

A type of cell overgrowth called basal cell hyperplasia (BCH) has been blamed for progressive esophageal stiffening. While BCH is strongly linked to disease severity,little is known about the molecular and cellular changes that drive BCH. Uncovering the molecular underpinnings of EoE to develop more effective therapies, Dr. Marie-Pier Tetreault’s team recently published a study that points the finger at two genes: SOX2 and KLF5. The researchers hypothesize that the elevation of SOX2 and KLF5 expression correlates with disease outcomes after treatment. With funding from this year’s DHF award, the investigators intend to analyze already biobanked (from the DHF BioRepository) esophageal tissue samples from patients undergoing diverse therapies. The team will look to connect the dots between changes in biomarker expression, treatment responses, and clinical outcomes. Using cutting-edge imaging techniques and clinical assessments, the group hopes to better understand EoE to pave the way toward more personalized and targeted therapies for current and future patients. Better, more effective treatment can preserve remaining esophageal function and prevent further esophageal stiffening and scarring. This progress can add years of functional swallowing, eating, drinking, and diminished pain for the many adults and children living with EoE .

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