Project 1

Contact Us

For Patients:
Wendy Brock: 216-844-3853
Wendy.Brock@uhhospitals.org

For Other Inquiries:
Tracy Krebs: 216-368-6058
 

Genetic Predisposition to Barrett’s Esophagus and Esophageal Adenocarcinoma

Barrett’s esophagus (BE) and esophageal adenocarcinoma (EAC) are complex diseases with undiscovered genetic factors. We successfully discovered a deleterious variant in VSIG10L segregating in a large family. This is the first such reported gene for susceptibility to BE and EAC. VSIG10L appears to function in adhesion and differentiation/maturation of stratified squamous epithelium.

The BETRNet focus of Project 1 is thus to create a genetically engineered mouse model based on VSIG10L to understand the transformation from squamous epithelium to metaplastic Barrett’s epithelium. The significance of Project 1 is clearly in first building on our successful discovery of the first familial susceptibility genetic variant by understanding how this gene functions in metaplastic transformation of Barrett’s epithelium.

three dimensional OTC of EPC-2 cells shows normal morphology in cells transfected with wild type VSIG10L (left) versus mutant VSIG10L (right).

Project 1 Key Personnel

Project 1 PI: Amitabh Chak, M.D.
Project 1 Co-PI: Kishore Guda, D.V.M., Ph.D.
Project 1 Co-Investigator: Sanford Markowitz, M.D., Ph.D.
Project 1 Co-Investigator: Nathan Berger, M.D.
Project 1 Co-Investigator: Joseph Willis, M.D.
Project 1 Co-Investigator: Vinay Varadan, Ph.D.