Description of Research Expertise

I study the neuroendocrine systems that regulate energy balance in humans. Our translational research program has two main areas of focus. First, we study individuals with metabolic disorders with characterized by risk for diabetes mellitus, including primary mitochondrial diseases, Friedreich's ataxia, and lipodystrophy. Second, we focus on brain disorders associated with excess weight gain, including brain-tumor related hypothalamic obesity syndrome and idiopathic intracranial hypertension. 

We perform detailed assessments of mitochondrial bioenergetics and metabolism in humans with these conditions using, for example, non-invasive imaging techniques, stable isotopes, and integrated metabolomics and proteomics. We complement these in vivo studies with in vitro experiments to more fully explore the tissue-specific causes and consequences of abnormal energy balance in model systems such as patient-derived cell lines. 

Insights from these rare conditions can then be leveraged to better understand and treat common disorders of energy balance like obesity and diabetes mellitus.

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Selected Publications