Chin Laboratory

Dr. Chin is the inaugural Research Director for the Tufts Hypertrophic Cardiomyopathy Center and Research Institute, a clinical center for excellence for HCM diagnosis and treatment. The research institute is focused on identifying pathogenic pathways in human HCM using single-cell and spatial transcriptomic methods on clinical myectomy specimens to identify therapeutic targets and also using state-of-the-art proteomics and metabolomics to identify biomarkers that will aid in the diagnosis and personalized treatment of HCM and its complications. 

Barth Syndrome is a rare X-linked disorder resulting from a mutation in the tafazzin gene, which encodes an enzyme that remodels cardiopin to a form that is important for normal mitochondrial structure and function. Patients with this disorder develop cardiomyopathy in childhood accompanied by skeletal myopathy and cyclic neutropenia. Patients rarely survive beyond young adulthood and there are no efficacious therapies. Dr. Chin’s lab is focused on identifying novel therapeutic targets through single-cell transcriptomic analysis of a mouse model of Barth Syndrome, developing novel gene therapies using modified tafazzins and developing a recombinant enzyme replacement therapy that uses cell-penetrating peptides to enter the cell, localize to mitochondria and correct the mitochondrial defects associated with this disorder.