My research focuses on the molecular and genetic basis of rare mitochondrial disorders. Mitochondria are the primary energy-producing organelle in the cell, and for this reason mutations affecting mitochondrial function can severely compromise the function of energy-intensive organs such as the brain or heart. Neurodegenerative disease and optic atrophy in particular are common presentations in mitochondrial disorders, including those studied by my group. My current work focuses on various aspects of how mitochondrial genetics and inheritance influence cellular dysfunction and disease. In particular, my lab has focused on several mitochondrial genes such as ATP5G3 (ATP synthase membrane subunit C, locus 3) and FDXR (ferredoxin reductase) that are involved in inherited forms of mitochondriopathy with unique and underappreciated pathogenic mechanisms, including iron dysregulation and steroid biosynthesis defects.

In addition to these studies focused on rare mitochondrial and neurodegenerative disease, there is also a growing aspect of my work focused on the mitochondrial aspects of aging and age-related diseases. Over the course of my career, I have co-authored dozens of papers on a range of topics, including the mitochondrial basis of common diseases (such as cancer and diabetes), the role of mitochondrial genome mutations in aging, and the potential for gene therapy in the treatment of mitochondrial disorders. Ultimately, my hope is that this work will lead not only to benefits for patients suffering from inherited mitochondrial disorders, but also further our understanding of how mitochondrial dysfunction contributes more broadly to human health.