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MitoAction

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

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Dr. Shana McCormack, MD, MTR

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Shana McCormack, MD, is an attending physician in the Division of Endocrinology and Diabetes and an assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. She cares for children with pediatric endocrine disease. She has a clinical interest in patients with endocrine dysfunction related to individually rare metabolic disorders such as primary mitochondrial disease, Freidreich ataxia, and lipodystrophy. She also has an interest in inherited and acquired forms of hypothalamic and pituitary dysfunction, in particular those associated with abnormal energy balance and obesity, like craniopharyngiomas. Finally, she cares for children with all types of obesity and its complications, such as type 2 diabetes mellitus and pseudotumor cerebri syndrome/idiopathic intracranial hypertension.

As a physician-scientist, she investigates the neuroendocrine systems that regulate energy balance in humans. Her translational research program has two main areas of focus. First, she studies individuals with metabolic disorders with characterized by risk for diabetes mellitus, including primary mitochondrial diseases, Friedreich’s ataxia, and lipodystrophy. Second, she focuses on brain disorders associated with excess weight gain, including brain-tumor related hypothalamic obesity syndrome and pseudotumor cerebri syndrome/idiopathic intracranial hypertension. She performs 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. She complements 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.

Past Expert Series Presentations

Finding the sweet spot: diagnosis and management of diabetes mellitus and hypoglycemia in individuals with mitochondrial disorders

Upcoming
Events

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Oct 5
6:00 pm - 7:00 pm Event Series

CPEO & Me

Oct 6
12:00 pm - 1:00 pm

Expert Series: Ultra-Rare Mitochondrial Diseases: Development Challenges and Opportunities

Oct 6
1:15 pm - 2:15 pm

Weekly Support Call

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Expert
Series

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Upcoming Presentations

Oct 6
12:00 pm - 1:00 pm

Expert Series: Ultra-Rare Mitochondrial Diseases: Development Challenges and Opportunities

Nov 1
7:00 pm - 8:00 pm

Expert Series: LCHADD Retinopathy Update: Moving Toward a Treatment

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Last Presentation

Episode 2: Wondering Wednesdays: Ask the Genetic Counselor (February 22, 2023)
Presented August 28, 2023

P.O. Box 310
Novi, MI 48376
(888) 648-6228
info@mitoaction.org

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