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

faculty photo
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
Education:
A.B. (Biochemical Sciences)
Harvard College, 1999.
M.D.
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, 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 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

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. Genom Precis Med Page: doi: 10.1161/CIRCGEN.119.002553, Apr 2020.

Armenian SH, Iukuridze A, Teh JB, Mascarenhas K, Herrera A, McCune JS, Zain JM, Mostoufi-Moab S, McCormack S, Slavin TP, Scott JM, Jones LW, Sun CL, Forman SJ, Wong FL, Nakamura R: Abnormal body composition is a predictor of adverse outcomes after autologous haematopoietic cell transplantation. J Cachexia Sarcopenia Muscle Page: doi: 10.1002/jcsm.12570, Mar 2020.

McCormack Shana E, Blevins James E, Lawson Elizabeth A: Metabolic Effects of Oxytocin. Endocrine Reviews Dec 2019.

Schur GM, Nguyen S, Dedio A, Wade K, Mitta N, Wilson N, Miguez S, Serai S, Wang DJ, Falk MJ, Rajapaske C, Reddy R, Lynch D, McCormack SE.: Skeletal muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in adults and children with Friedreich's Ataxia. International Ataxia Research Conference, Washington DC, Poster Presentation. Nov 2019.

Tamaroff J, Mitta N, Nguyen S, Wilson N, Stefanovski D, Schur GM, Dedio A, Wade K, Lynch D, Reddy R, Kelly A, Rickels M, McCormack S.: Continuous glucose monitoring in adults with Friedreich’s Ataxia. International Ataxia Research Conference, Washington DC, Poster Presentation. Nov 2019.

Bradfield JP, Vogelezang S, Felix JF, Chesi A, Helgeland Ø, Horikoshi M, Karhunen V, Lowry E, Cousminer DL, Ahluwalia TS, Thiering E, Boh ET, Zafarmand MH, Vilor-Tejedor N, Wang CA, Joro R, Chen Z, Gauderman WJ, Pitkänen N, Parra EJ, Fernandez-Rhodes L, Alyass A, Monnereau C, Curtin JA, Have CT, McCormack SE, Hollensted M, Frithioff-Bøjsøe C, Valladares-Salgado A, Peralta-Romero J, Teo Y, Standl M, Leinonen JT, Holm J, Peters T, Vioque J, Vrijheid M, Simpson A, Custovic A, Vaudel M, Canouil M, Lindi V, Atalay M, Kähönen M, Raitakari OT, van Schaik BDC, Berkowitz RI, Cole SA, Voruganti VS, Wang Y, Highland HM, Comuzzie AG, Butte NF, Justice AE, Gahagan S, Blanco E, Lehtimäki T, Lakka TA, Hebebrand J, Bonnefond A, Grarup N, Froguel P, Lyytikäinen L, Cruz M, Kobes S, Hanson RL, Zemel BS, Hinney A, Teo KK, Meyre D, North KE, Gilliland FD, Bisgaard H, Bustamante M, Bonnelykke K, Pennell CE, Rivadeneira F, Uitterlinden AG, Baier LJ, Vrijkotte TGM, Heinrich J, Sørensen TIA, Saw S, Pedersen O, Hansen T, Eriksson J, Widén E, McCarthy MI, Njølstad PR, Power C, Hyppönen E, Sebert S, Brown CD, Järvelin M, Timpson NJ, Johansson S, Hakonarson H, Jaddoe VWV: A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Hum Mol Genet 28(19): 3327-3338, Oct 2019.

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ: Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PLoS One 14(9): e0221829, Sep 2019.

De Rosa MC, Chesi A, McCormack SE, 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 104(7): 2961-2970, Jul 2019.

Kohli AA, Vossough A, Mallery RM, Woo JH, Sheldon CA, Paley GL, Digre KB, Friedman DI, Farrar JT, McCormack SE, Liu G, Szperka CL: Magnetic resonance imaging findings in pediatric pseudotumor cerebri syndrome. Pediatr Neurol Page: doi: 10.1016, May 2019.

Cousminer DL, McCormack SE, Mitchell JA, Chesi A, Kindler JM, Kelly A, Voight BF, Kalkwarf HJ, Lappe JM, Shepherd JA, Oberfield SE, Gilsanz V, Zemel B, Grant SFA: Postmenopausal osteoporotic fracture-associated COLIA1 variant impacts bone accretion in girls. Bone 121: 221-226, Apr 2019.

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Last updated: 06/29/2020
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