Molecular Profiling and Associations with Clinical Phenotypes in Adult Eosinophilic Esophagitis

Principal Investigator:  Nirmala Gonsalves, MD

Previously thought to be a rare disorder, Eosinophilic Esophagitis (EoE) has emerged as a common cause of swallowing problems (dysphagia) and esophageal dysfunction in adults. The condition arises when inflammatory cells called “eosinophils” wreak havoc on the esophagus by creating inflammation. Over time, the inflamed esophagus begins to undergo abnormal structural changes that can severely impede the passage of food and make it extremely difficult to eat or drink and live a normal life. EoE can lead to increased risk of food impactions, often requiring immediate medical attention. Occurring in 1 to 2 individuals per 10,000, EoE’s prevalence rivals that of other immunologically-related disease such as inflammatory bowel disease and can cause similar debilitating pain and discomfort.

While diet changes and medications such as topical corticosteroids work well, matching the best treatment to the right patient remains challenging. Funded by a Digestive Health Foundation grant, Northwestern Medicine researchers led by Nirmala Gonsalves, MD, a faculty member in the Division of Gastroenterology and Hepatology, hope to uncover genetic differences between EoE patients that could lead to better predictors of treatment response and more personalized care.

Northwestern Medicine currently has one of the world’s largest cohorts of adults being diagnosed and treated with EoE. Some 700 esophageal tissue samples from these patients, collected at various points in their disease progression, provide an invaluable resource for study. Dr. Gonsalves’ research team plans to mine Northwestern’s comprehensive clinical database (NUCATS) in combination with sophisticated genetic testing and analysis of tissue biopsies. The grant will allow investigators to embark on what will be the largest molecular-phenotype association study of its kind for EoE.

Still a newly identified and growing condition, especially among young adults, EoE is often undiagnosed and untreated. Consequently, many people struggle with incapacitating symptoms for long periods of time until they finally can pinpoint the source of their digestive problems. Discovery of novel genetic markers have the potential to significantly improve the care of patients with this previously thought to be rare disorder that has today become all too common.

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Posted on

June 23, 2017