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/Radcliffe Colleges, 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 metabolic disorders such as primary mitochondrial disease, Freidreich ataxia, and lipodystrophy referred by CHOP's Mitochondrial Medicine Center and Friedreich Ataxia Program. 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. Beyond these specific populations, I care for patients with other types of obesity and its complications, such as type 2 diabetes mellitus and pseudotumor cerebri syndrome.

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

Mitchell JA, Chesi A, McCormack SE, Cousminer DL, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield S, Shepherd JA, Kelly A, Zemel BS, Grant SFA: Principal component-derived bone density phenotypes and genetic regulation of the pediatric skeleton. 8th International Conference on Children’s Bone Health, Würzburg, Germany, Oral Presentation. Jun 2017

Mitchell JA, Chesi A, Cousminer DL, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Zemel BS, Grant SFA: Multi-dimensional bone density phenotyping reveals new insights in to genetic regulation of the pediatric skeleton. Journal of Bone and Mineral Research accepted 2017

McCormack SE, Mitchell JA, Zemel BS: Adaptation of Bone to Mechanical Strain—Reply. JAMA Pediatrics in press 2017

Cousminer DL, Mitchell JA, Chesi A, Roy SM, Kalkwarf HJ, Lappe JM, Gislanz V, Oberfield SE, Shepherd JA, Kelly A, McCormack SE, Voight BF, Zemel BS, Grant SFA: Genetically determined later puberty impacts lowered bone mineral density in childhood and adulthood. J Bone Miner Res Oct 2017.

Cousminer DL, Mitchell JA, Chesi A, Roy SM, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, McCormack SE, Voight BF, Zemel BS, Grant SFA: Genetically determined later puberty impacts lowered bone mineral density in childhood and adulthood. 10th World Congress on Development Origins of Health and Disease (DOHaD), Rotterdam, The Netherlands, Oral Presentation. Oct 2017.

Chesi A, Grgić O, Medina-Gomez C, McCormack SE, Cousminer DL, Mitchell JA, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Trajanoska K, Jaddoe V, Uitterlinden AG, Wolvius EB, Zemel BS, Grant SFA, Rivadeneira F: A genome-wide association meta-analysis implicates adrenal steroidogenesis in the process of skeletal maturation. American Society for Bone and Mineral Research (ASBMR) Annual Meeting, Denver CO, Oral Presentation. Sep 2017.

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: a longitudinal assessment of a diverse cohort of children and adolescents. JAMA Pediatrics Jul 2017.

McCormick A, Farmer J, Perlman S, Delatycki M, Wilmot G, Matthews K, Yoon G, Holye C, Subramony SH, Zesiewicz T, Lynch DR, McCormack SE: Impact of diabetes in the Friedreich Ataxia Clinical Outcome Measure Study. Annals of Clinical and Translational Neurology Jul 2017.

Parkih S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Chinnery P, Cohen BH, Christodolou J, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye R, Ganesh J, Griessemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Rahman S, Reimschisel T, Salvarinova R, Saneto R, Scaglia F, Shoffner J, Stacpoole P, Sue CM, Tarnopolsky M, Karnebeek CV, Wolfe LA, Zolkipli Cunnigham Z: Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine Jul 2017.

Mitchell JA, Chesi A, McCormack SE, Cousminer DL, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Zemel BS, Grant SFA.: Principal component-derived bone density phenotypes and genetic regulation of the pediatric skeleton. 8th International Conference on Children’s Bone Health (ICCBH), Würzburg, Germany, Oral Presentation. June 2017.

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Last updated: 12/06/2017
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