Shana E. McCormack, M.D., M.T.R.

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Assistant Professor of Pediatrics
Department: Pediatrics

Contact information
Children’s Hospital of Philadelphia
34th and Civic Center Boulevard
Division of Endocrinology and Diabetes
11NW, Suite 30
Philadelphia, PA 19104
Office: (215) 590 - 3174
Fax: (215) 590 - 3053
A.B. (Biochemical Sciences)
Harvard/Radcliffe Colleges, 1999.
Harvard Medical School and Massachusetts Institute of Technology, 2005.
M.T.R (Translational Research)
Perelman School of Medicine at the University of Pennsylvania , 2015.
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Description of Clinical Expertise

I care for children with pediatric endocrine disease. I have a clinical interest patients with endocrine dysfunction related to individually rare metabolic disorders associated with increased risk for diabetes including primary mitochondrial disease, Freidreich ataxia, and lipodystrophy. I collaborate with CHOP's Mitochondrial Medicine Frontiers Program and CHOP's Friedreich Ataxia Center of Excellence. I also care for children inherited and acquired forms of hypothalamic and pituitary dysfunction, in particular those associated with abnormal energy balance and obesity, like craniopharyngiomas, and serve as scientific director for CHOP's Neuroendocrine Center.

Description of Research Expertise

I study the intersection of neuroendocrinology and metabolism in humans. Our translational research program has two main areas of focus. First, we study individuals with genetic disorders with characterized by risk for diabetes mellitus, including primary mitochondrial diseases and Friedreich's ataxia. 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. To put our findings in context, we also study how energy balance affects growth, development, and body composition in healthy children and adolescents.

Insights from these rare metabolic conditions may help us to better understand and treat more widespread problems related to energy balance, including obesity and diabetes mellitus.

Selected Publications

Diana L. Cousminer, Shana E. McCormack, Jonathan A. Mitchell, Alessandra Chesi, Joan M. Lappe, Heidi Kalkwarf, Sharon E. Oberfield, Vicente Gilsanz, Andrea Kelly, Jonathan A. Shepherd, Benjamin F. Voight, Babette S. Zemel, and Struan F.A. Grant: The COLIA1 Sp1 variant and bone accrual in childhood. American Society for Bone & Mineral Research Annual Meeting, Montreal, Canada, Oral Presentation. Sep 2018.

Mitchell JA, Chesi A, McCormack SE, Cousminer DL, Kalkwarf HJ, Lappe MJ, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Grant SFA, Zemel BS: Physical activity and bone accretion: isotemporal modeling and genetic Interactions. Med Sci Sports Exer May 2018.

Polyaka E, Ostrovsky J, Peng M, Dingley SD, Tusikisawa M, Kwon YJ, McCormack S, Bennett M, Xiao R, Seiler C, Zhang G, Falk MJ: N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in preclinical models of mitochondrial complex I disease. Mol Genet Metab 123(4): 449-462, Apr 2018.

Kuehn MH, Mishra R, Deonovic BE, Miller KN, McCormack SE, Liu GT, Kupersmith MJ, Wall M and the NORDIC IIHTT Study Group: Genetic survey of adult onset idiopathic intracranial hypertension. J Neuroophthalmol Mar 2018.

Al-Gadi I, Haas R, Falk MJ, Goldstein A, McCormack SE.: Endocrine disorders in primary mitochondrial disease. J Endocr Soc 19(2(4)): 361-373, Feb 2018.

Xia Q, Lu S, Ostrovsky J, McCormack SE, Falk MJ, Grant SFA: PARP-1 inhibition rescues short lifespan in hyperglycemic C. elegans and improves GLP-1 secretion in human cells. Aging and Dis 9(1): 17-30, Feb 2018.

McCormack SE, Mitchell JA, Zemel BS: Adaptation of Bone to Mechanical Strain—Reply. JAMA Pediatr 172(2): 196-197, Feb 2018.

Hamedani AG, Witonsky KFR, Cosico M, Rennie R, Xiao R, Sheldon CA, Paley GL, McCormack SE, Liu GW, Friedman DI, Liu GTL, Szperka CL : Headache characteristics in children with pseudotumor cerebri syndrome, elevated opening pressure without papilledema, and normal opening pressure: a retrospective cohort study. Headache accepted 2018.

Roy SM, Fields DA, Mitchell JA, Hawkes CP, Kelly A, Wu GD, DeRusso PA, Elovitz MA, Ford E, Drigo D, Zemel BS, McCormack SE: Body mass index is a better indicator of body composition than weight-for-length at age 1 month. J Pediatr accepted 2018.

Beres SJ, Sheldon CA, Boisvert CJ, Szperka CL, Paley GL, Burrows EK, Chilutti MR, Liu GW, McCormack SE*, Liu Grant T* (* denotes equal contributions): Clinical and prognostic significance of CSF opening and closing pressures in pediatric pseudotumor cerebri syndrome. Pediatric Neurology accepted 2018.

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Last updated: 10/15/2018
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