McCormack Laboratory

The McCormack Lab's translational research program has two main areas of focus. First, the lab studies individuals with genetic disorders with risk for diabetes mellitus, including primary mitochondrial diseases and Friedreich's ataxia. Second, the team focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension. 

As part of their work, the McCormack Lab performs detailed assessments of metabolism, mitochondrial bioenergetics and neuroendocrine function in humans with these conditions using, for example, noninvasive imaging techniques, stable isotopes, and integrated metabolomics and proteomics. Complementing these approaches are in vivo studies with in vitro experiments aimed at more fully exploring the tissue-specific causes and consequences of abnormal energy balance in model systems such as patient-derived cell lines. To put the research findings in context, the lab team also studies how energy balance affects growth, development, and body composition in healthy children and adolescents.

Insights from these rare metabolic conditions may lead to a greater understanding and better treatments for more widespread problems related to energy balance, including obesity and diabetes mellitus.

Project Highlights

• Skeletal muscle oxidative phosphorylation capacity and nutrient homeostasis in individuals with primary (genetic) and secondary (obesity-related) mitochondrial impairment as compared to healthy, normal-weight individuals
• Magnetic Resonance Imaging (MRI) muscle and bone phenotyping in mitochondrial disease
• Neurological and metabolic measures of progression in children with Friedreich Ataxia
• Intranasal oxytocin to promote weight loss in children, adolescents, and adults with brain tumors and hypothalamic obesity syndrome
• Clinical characteristics of pediatric pseudotumor cerebri syndrome