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Medical student uncovers genes that cause chronic inflammation of esophagus

Catherine Doss

12 Mar 2024

Woman wearing white lab coat and medical student badge in lab holding lab instruments. — Kacie Hoyt took on the challenge of researching the gene expression of a debilitating esophageal illness to understand the gaps in knowledge surrounding the condition. Photo by Ryan Anderson for Virginia Tech.

Individuals with eosinophilic esophagitis experience chronic acid reflux, chest discomfort, and difficulty swallowing. Eosinophilic esophagitis is an allergic condition marked by the progressive inflammation of the esophagus that over time can lead to esophageal erosion. While some gene expression of the condition has been reported, few studies explore the genetics among groups that include both adult and pediatric populations.

Kacie Hoyt, a fourth-year student at the Virginia Tech Carilion School of Medicine, researched the gene expression of eosinophilic esophagitis (EoE) to understand the gaps in knowledge surrounding this condition. Her research project earned her a Letter of Distinction at the school’s 2024 Student Research Symposium.

Project overview

“We started out by exploring the question why are there are some people who get manifestations of EoE and inflammatory bowel disease at the same time,” Hoyt said. “We wanted to dig into the genetics that underlie these two conditions.”

Hoyt and her research team identified two new gene families that were expressed differently in eosinophilic esophagitis subjects. Early analysis shows these genes also are differentially expressed in people who develop eosinophilic esophagitis and inflammatory bowel disease at the same time.

“We learned that these two groups have some gene families in common that are dysregulated from healthy controls,” she said.

The research team also identified that the new gene families are differentially expressed in eosinophilic esophagitis patients in both adult and pediatric populations.

“Having a really clear understanding of the mechanisms that underlie disease can tremendously improve treatment. These findings present an opportunity for a future therapeutic target that could benefit a large number of patients,” Hoyt said.

Findings

The majority of Hoyt’s research involved computational analysis of genetic data.

“I learned that there are a lot of different ways to analyze the same data, and I needed to learn enough about each to pick the right one to serve our purposes,” she said. “Genetic studies can get a bit convoluted.”

Hoyt’s research team included her mentor Coy Allen, professor in the Department of Biomedical Sciences and Pathobiology at the Virginia-Maryland College of Veterinary Medicine, and Holly Morrison, then a doctoral candidate at the veterinary college.

“They were so instrumental in this project,” Hoyt said. “It’s just as much their work as mine.”

Hoyt and Morrison were co-first authors on an article in the journal Frontiers in Allergy and presented a poster at the Southwestern Immunology Symposium.

Significance of research

As a rare disorder, but one with an increasing number of newly diagnosed patients, the body of literature surrounding eosinophilic esophagitis has not been well documented.

“I wanted to pick a project that could impact a growing patient population,” Hoyt said. “Investigating details of the pathways that lead to disease is fascinating, and with new advances in pharmaceuticals, it can lead to exciting treatments.”

Although Hoyt’s project just “scratched the surface” of what there is to learn about the condition, the findings of these two new gene families could significantly contribute to future studies in understanding inflammatory esophageal disorders.

“Kacie played a critical role in the work,” Allen said. “Our hope is that this work can be used to better understand this understudied disorder, and the genes identified may one day improve diagnostics and/or therapy development.”