We are excited to announce the launch of our new partnership with Emory University, the Myhre Therapeutic Discovery and Development (MTD2) program, which is designed to shed light on the underlying molecular mechanisms of Myhre Syndrome and lay the foundation for future treatments by mapping how the SMAD4 gene mutation alters the way SMAD4 proteins in the body interact with its partners.

To carry out the research, the team has built a specialized gene library known as the MTD2 Informer Set, containing 57 key genes involved in important cellular functions like growth, development, and inflammation. These genes will be tested against both healthy and mutated forms of SMAD4 to identify differences in how these proteins “talk” to each other inside cells, ultimately identifying which protein interactions are disrupted or newly formed because of the SMAD4 mutation.

This research has the potential to uncover a network of ‘molecular miscommunications.’ Through identifying which proteins are relevant, we will be able to screen drugs from libraries that act on these proteins and then test the hits in our preclinical platform.

The Myhre Syndrome Foundation is proud to support this six-month research project and remains committed to driving research that brings us closer to treatments for Myhre Syndrome. We look forward to sharing the results with the community later this year.