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
3500 Civic Center Boulevard
Division of Endocrinology and Diabetes
12th Floor, Buerger Center
Philadelphia, PA 19104
Office: (215) 590 - 3174
Fax: (215) 590 - 3053
A.B. (Biochemical Sciences)
Harvard College, 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 neuroendocrine and metabolic disorders. I serve as scientific director for CHOP's Neuroendocrine Center.

I care for children with diabetes related to primary mitochondrial disease and Freidreich ataxia. 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 pseudotumor cerebri syndrome, a complication of obesity and/or other endocrine disorders.

Description of Research Expertise

My translational research program focuses on children and adults with rare metabolic disorders that impact neuroendocrine function. Our goal is to improve the lives of affected individuals and their families.

We study two main disease areas. First, we study mitochondrial forms of diabetes that occur in the setting of genetic disorders like Friedreich’s Ataxia that impact mitochondrial metabolism. Second, we study hypothalamic obesity that results from hypothalamic/pituitary tumors, with a focus on craniopharyngioma.

We perform mechanistic studies and clinical trials to develop new therapeutic approaches. To do this work, we develop novel techniques for in vivo assessments of metabolism, mitochondrial bioenergetics, and neuroendocrine function in humans using, for example, non-invasive imaging techniques, stable isotope tracing, and integrated metabolomics and proteomics. We also develop innovative strategies to assess body composition and statistically model pediatric growth in health and disease, and collaborate with CHOP/Penn colleagues to understand the contribution of nuclear and mitochondrial genetics to metabolic phenotypes.

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.

Selected Publications

McCormack SE, Abuzzahab MJ, Shoemaker AH, Roth CL: Hypothalamic Obesity, Acquired. National Organization for Rare Disorders Apr 2021 Notes:

Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED: Understanding the phenotypic spectrum of ASXL-related disease: ten cases and a review of the literature. Am J Med Genet A Mar 2021 Notes: doi: 10.1002/ajmg.a.62156.

Ehinger JK, Karlsson M, Sjövall F, Leffler M, McCormack SE, Kubis SE, Åkesson A, Falk MJ, Kilbaugh TJ: Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatr Res Feb 2021 Notes: doi: 10.1038/s41390-021-01410-z.

Cousminer DL, Wagley Y, Pippin JA, Elhakeem A, Way GP, Pahl MC, McCormack SE, Chesi A, Mitchell JA, Kindler JM, Baird D, Hartley A, Howe L, Kalkwarf HJ, Lappe JM, Lu S, Leonard ME, Johnson ME, Hakonarson H, Gilsanz V, Shepherd JA, Oberfield SE, Greene CS, Kelly A, Lawlor DA, Voight BF, Wells AD, Zemel BS, Hankenson KD, Grant SFA: Genome-wide association study implicates novel loci and reveals candidate effector genes for longitudinal pediatric bone accrual. Genome Biol Jan 2021 Notes: doi: 10.1186/s13059-020-02207-9.

Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY: Friedreich Ataxia: Multidisciplinary Clinical Care. J Multidiscip Healthc 14: 1645-1658, 2021.

Zamani P, Proto EA, Wilson N, Fazelinia H, Ding H, Spruce LA, Davila A Jr, Hanff TC, Mazurek JA, Prenner SB, Desjardins B, Margulies KB, Kelly DP, Arany Z, Doulias PT, Elrod JW, Allen ME, McCormack SE, Schur GM, D'Aquilla K, Kumar D, Thakuri D, Prabhakaran K, Langham MC, Poole DC, Seeholzer SH, Reddy R, Ischiropoulos H, Chirinos JA: Multimodality assessment of heart failure with preserved ejection fraction skeletal muscle reveals differences in the machinery of energy fuel metabolism. ESC Heart Fail 2021 Notes: doi: 10.1002/ehf2.13329.

Tamaroff J, Kilberg M, Pinney SE, McCormack S: Overview of atypical diabetes. Endocrinol Metab Clin North Am Dec 2020 Notes: doi: 10.1016/j.ecl.2020.07.004.

Hawkes CP, Mostoufi-Moab S, McCormack SE, Grimberg A, Zemel BS: Leg length and sitting height reference data and charts for children in the United States. Data Brief Aug 2020.

Hawkes CP, Mostoufi-Moab S, McCormack SE, Grimberg A, Zemel BS: Sitting height to standing height ratio reference charts for children in the United States. J Pediatr Jun 2020.

Kember RL, Levin MG, Cousminer DL, Tsao N, Judy R, Schur GM, Lubitz SA, Ellinor PT, McCormack SE, Grant SFA, Rader DJ, Voight BF, Damrauer SM: Genetically determined birthweight associates with atrial fibrillation: a Mendelian randomization study. Circ Genom Precis Med Page: doi: 10.1161/CIRCGEN.119.002553, Apr 2020.

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Last updated: 07/27/2021
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