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Shana E. McCormack, MD, MTR
Attending Physician
Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.
Bio
Dr. McCormack and her colleagues perform detailed assessments of mitochondrial bioenergetics and metabolism in humans with mitochondrial and neuroendocrine disorders 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. She also tests rational therapies in clinical trials.
Insights gained from these rare metabolic conditions may help Dr. McCormack and her team to better understand and treat more widespread problems related to energy balance, including obesity and diabetes mellitus. To put their findings in context, the team also studies how energy balance affects growth, development, and body composition in healthy children and adolescents.
Key accomplishments from Dr. McCormack and her group include:
- Adapting a novel, non invasive, imaging technique to measure mitochondrial energy production in skeletal muscle in humans with mitochondrial disorders
- Characterizing the scope of endocrine disorders that occur in individuals with genetic mitochondrial disorders
- Applying new statistical methods to measure growth and acquisition of muscle and bone in healthy children
- Leading a clinical trial of intranasal oxytocin in children and adults with hypothalamic obesity syndrome
Dr. McCormack serves as Scientific Director for the CHOP Neuroendocrine Center and is a clinical and clinical research affiliate of the CHOP Mitochondrial Medicine Frontier Program.
Education and Training
AB, Harvard College (Biochemical Sciences), 1999
MD, Harvard Medical School, 2005
MTR, University of Pennsylvania (Translational Research), 2015
Titles and Academic Titles
Attending Physician
Assistant Professor of Pediatrics
Scientific Director, CHOP Neuroendocrine Center
Professional Memberships
Pediatric Endocrine Society, 2009-
Endocrine Society, 2009-
United Mitochondrial Disease Foundation, 2013-
Mitochondrial Medicine Society, 2013-
National Institutes of Health, National Institute of Neurological Disorders and Stroke, 2014-2017
Society for Pediatric Research, 2014-
Society for Inherited Metabolic Disorders, 2015-
American Society for Bone and Mineral Research, 2015-
Professional Awards
Fellow Travel Award, Lawson Wilkins Pediatric Endocrine Society, 2010
Travel Award for Young Investigators Pediatric Academic Society, 2012
Perelman School of Medicine at the University of Pennsylvania Institute for Translational Medicine and Therapeutics (ITMAT) Fellowship to support Master’s in Translational Research, 2013-2015
American Society for Clinical Investigation Young Physician Scientist Award, 2016
Uplifting Athletes Foundation Young Investigators Award, 2019
Publication Highlights
PubMed:
De Rosa MC, Chesi A, McCormack S, Zhou J, Weaver B, McDonald M, Christensen S, Liimatta K, Rosenbaum M, Hakonarson H, Doege CA, Grant SFA, Hirschhorn JN, Thaker VV. Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity. J Clin Endocrinol Metab. 2019 Jul; 104(7):2961-2970. doi: 10.1210/jc.2018-02657. PubMed PMID: 30811542; PubMed Central PMCID: PMC6546308
Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Endocrine Disorders in Primary Mitochondrial Disease. J Endocr Soc. 2018 Feb; 2(4):361-373. PMID: 29594260
McCormack SE, Cousminer DL, Chesi A, Mitchell JA, Roy SM, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Winer KK, Kelly A, Grant SFA, Zemel BS. Association Between Linear Growth and Bone Accrual in a Diverse Cohort of Children and Adolescents. JAMA Pediatr. 2017 Sep; 171(9):e171769. PMID: 28672287
McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Hoyle C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE. Impact of diabetes in the Friedreich ataxia clinical outcome measures study. Ann Clin Transl Neurol. 2017 Jul; 4(9):622-631. PMID: 28904984
McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome. J Clin Endocrinol Metab. 2017 Jul; 102(7):2501-2507. doi: 10.1210/jc.2017-00332. Review. PubMed PMID: 28453858; PubMed Central PMCID: PMC5505202