Ph.D. student Linh Vo studies molecular disease mechanisms

Understanding rare diseases

The pathophysiology of many diseases represents a proverbial black box. While we may know the root cause (e.g., a gene mutation), details on how this leads to the clinical presentation are often vague, and this precludes the development of effective treatments.

This dilemma lies at the heart of Ph.D. candidate Linh Vo's research. As a member of the Greenberg lab, Linh's work focuses on understanding the molecular basis of cardio- and skeletal muscle myopathy and exercise intolerance in Barth syndrome patients, a rare genetic disorder caused by mutations in the cardiolipin remodeling enzyme, tafazzin.

Using a variety of techniques, Linh has identified a novel link between cardiolipin remodeling and regulation of muscle development and repair. These findings have caught the attention of the Barth syndrome research community, and this past summer, Linh was invited to present her research at the 2022 Barth Syndrome Foundation International Scientific, Medical, & Family Conference.

Linh's talk, titled "Cardiolipin metabolism regulates MyoD1 expression and muscle development", was well received by those in attendance and has stimulated a new research direction for understanding and potentially treating the most debilitating feature of Barth syndrome. Furthermore, Linh's preliminary data served as part of the basis for the Greenberg Lab's most recently awarded grant from the Cayman Biomedical Research Institute.