Center for Pediatric Genomics
Developing Noninvasive Diagnosis of Eosinophilic Esophagitis by Genetic Profiling

Developing Noninvasive Diagnosis of Eosinophilic Esophagitis by Genetic Profiling

Principle Investigators: Ting Wen, PhD, & Marc Rothenberg, MD, PhD

Ting Wen & Marc Rothenberg.Eosinophilic esophagitis (EoE) is a chronic, food-driven, gastrointestinal (GI) tissue-specific, inflammatory allergic disease with unmet diagnostic and management needs. At present, the clinical diagnosis and monitoring of patients rely solely on tissue analysis of esophageal biopsies, which is subjective, lengthy, complicated, expensive and non-specific. The field urgently calls for a noninvasive or less invasive diagnostic method. We have initiated a next-generation sequencing (NGS)-based biomarker screening approach, aiming to develop noninvasive biomarkers for definitive EoE diagnosis, monitoring and treatment evaluation.

We aim to substantiate the clinical use of the potential, multifaceted, noninvasive cheek-swab molecular test. Particularly, we will investigate the diagnostic merit of this test with additional individuals strategically designed to prove its value (sensitivity and specificity with regard to age, gender, atopic status, remission status and disease activity); test its predictive medicine capacity; and delineate the cellular / molecular mechanism for this novel translational genomics tool. Our findings have the potential to improve the diagnosis of EoE and optimize treatment strategies. All of these merits may be extendable to other diseases such as food allergy and other inflammatory gastrointestinal diseases.

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