Research Focus

Thesis Project Title: Development of an Enzyme Replacement Therapy for Barth Syndrome

Barth Syndrome is a rare X-linked disorder caused by mutations in the gene encoding the tafazzin transacylase. The absence of tafazzin leads to deficient remodeling of the mitochondrial phospholipid, cardiolipin, resulting in impaired mitochondrial function. Barth Syndrome patients often develop severe cardiomyopathy. Our group is working on developing a tafazzin enzyme replacement therapy for this debilitating syndrome.

Awards

Cardiovascular Pathology Training Grant

Barth Syndrome Foundation Grant