Dr Rubin leads team that engineers EHE mouse model

node leader
25 February 2021

Dr. Rubin used a novel approach to target the gene fusion that causes epithelioid hemgioendothelioma, engineering a novel, first-of-its-kind mouse model of the disease, which will help advance studies to identify new treatments.

Led by Brian Rubin, MD, PhD, the team’s animal model was proven indistinguishable from how EHE presents in patients. Dr. Rubin, who also chairs the Robert J. Tomsich Pathology & Laboratory Medicine Institute, explains:

While EHE is rare, it is highly lethal and there is unfortunately no standard treatment for the disease. One of the main factors that has limited advances in treatment options is the lack of reliable preclinical disease models for study.”

Targeting a disease-driving gene fusion

While genetic analyses and in vitro studies are important, in vivo studies are critical to uncover disease pathology and drug targets. Importantly, the researchers also determined that TAZ-CAMTA1—the protein fusion encoded by WWTR1-CAMTA1—is sufficient to drive EHE development and progression independent of other genetic factors.

The gene fusion acts as an over-activated form of the TAZ protein. Under normal conditions, TAZ regulates several characteristics of the cells that line blood vessels. When its activity is increased, TAZ contributes to the growth and spread of tumors. Dr Rubin went on:

Taken together, this suggests that TAZ-CAMTA1 and related signaling pathways are a promising target for treating EHE. We are excited to continue exploring this line of investigation, and hope the studies for new EHE treatments by others in the field will also be advanced by our new mouse model.

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