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

faculty photo
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.
M.D. (Health Sciences and Technology Program)
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 focus on 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, including hypothalamic obesity and diabetes insipidus.

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

Patel M, McCormick A, Tamaroff J, Dunn J, Mitchell JA, Lin KY, Farmer J, Rummey C, Perlman SL, Delatycki MB, Wilmot GR, Mathews KD, Yoon G, Hoyle J, Corti M, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE: Body mass index and height in the Friedreich Ataxia Clinical Outcome Measures Study. Neurol Genet 7(6): e638, Nov 2021.

Grgic O*, Gazzara RM*, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Sheroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F: CYP11B1 variants influence skeletal maturation via alternative splicing. Commun Biol 4(1): 1274, Nov 2021.

Schur GM, Dunn J, Nguyen S, Dedio A, Wade K, Tamaroff J, Mitta N, Wilson N, Reddy R, Lynch DR, McCormack SE: In vivo assessment of OXPHOS capacity using 3T CrCEST MRI in Friedreich’s ataxia. J Neurol Oct 2021.

Jensen AK, Sheldon CA, Paley GL, Szperka CL, Liu GW, Liu GT, McCormack SE: Autism spectrum disorder in pediatric idiopathic intracranial hypertension. eLife 11(9): 972, Sep 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 Aug 2021 Notes: doi: 10.1002/ehf2.13329.

Lynch DR, Schadt K, Kichula E, McCormack S, Lin KY: Friedreich Ataxia: multidisciplinary clinical care. J Multidiscip Healthc 14: 1645-1658, Jun 2021.

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.

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Last updated: 01/14/2022
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