Ongoing Research Funded by DHF
Molecular Changes in Scleroderma Esophageal Disease
Principal Investigator: Marie-Pier Tétreault, PhD
Scleroderma is considered an autoimmune disease (the immune system erroneously attacks the body) causing stiffening of the body’s connective tissues of numerous organs leading to stiffening and functional disruptions. More than 95 percent of scleroderma patients develop GI problems, with the esophagus being the most commonly affected organ. Weakening muscle tissue and impairing function, scleroderma esophageal disease can result in complications such as gastroesophageal reflux (GERD), Barrett’s esophagus, and/or adenocarcinoma. Despite efforts to better understand the nature of scleroderma in multiple organs, how scleroderma damages the esophagus remains unclear. Consequently, no treatment exists to change the course of scleroderma esophageal disease. Determining the molecular mechanisms underlying the disease process is critical to developing effective therapies. Using a powerful new technology called single-cell RNA sequencing (scRNA-seq), Dr. Tétreault will examine esophageal biopsies from patients with scleroderma esophageal disease. By pinpointing specific molecular changes in this patient population compared to those of healthy patients, her team hopes to identify novel targets for diagnosis and treatment of this complex disease.
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