Shana E. McCormack, M.D., M.T.R.
34th and Civic Center Boulevard
Division of Endocrinology and Diabetes
11NW, Suite 30
Philadelphia, PA 19104
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.
Description of Clinical ExpertiseI 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 ExpertiseMy 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 PublicationsDe Rosa MC, Chesi A, McCormack S, 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/or Latino children with severe early onset obesity. J Clin Endocrinol Metab 104(7): 2961-2970, Jul 2019.
Kohli Anita A, Vossough Arastoo, Mallery Robert M, Woo John H, Sheldon Claire A, Paley Grace L, Digre Kathleen B, Friedman Deborah I, Farrar John T, McCormack Shana E, Liu Grant T, Szperka Christina L: Magnetic Resonance Imaging Findings in Pediatric Pseudotumor Cerebri Syndrome. Pediatric neurology Page: doi: 10.1016, May 2019 Notes: epub ahead of print.
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.
Kuehn Markus H, Mishra Rajashree, Deonovic Benjamin E, Miller Kimberly N, McCormack Shana E, Liu Grant T, Kupersmith Mark J, Wall Michael: Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 39(1): 50-55, Mar 2019.
Harshman SG, McCormack SE, Zhang Z, Maso AA, Lawson EA: Effects of intranasal oxytocin on the fasting serum proteome in healthy lean and obese men. Endocrine Society Annual Meeting, New Orleans, LA, Poster Presentation. Mar 2019.
Nguyen S, Wilson N, Stefanovski D, Gur GM, Dedio A, Wade K, Lynch D, Reddy R, Kelly A, Rickels MR, McCormack SE: Muscle mitochondrial oxidative phosphorylation capacity and whole body glucose metabolism in Friedreich's Ataxia. Endocrine Society Annual Meeting, New Orleans, LA, Poster Presentation. Mar 2019.
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 39(1): 50-55, Mar 2019.
McCormack SE, Kelly A, Mitchell JA, Cousminer D, Chesi A, Kindler JM, Kalkwarf H, Lappe J, Gilsanz V, Oberfield SE, Shepherd J, Mahboubi S, Winer KK, Grant S, Zemel BS: Accounting for skeletal maturation in the assessment of pediatric bone mineral density. Endocrine Society Annual Meeting, New Orleans, LA, Guided Poster Presentation. Mar 2019.
Lynch DR, Hauser L, McCormick A, Wells M, Dong YN, McCormack S, Schadt K, Perlman S, Subramony SH, Mathews KD, Brocht A, Ball J, Perdok R, Grahn A, Vescio T, Sherman JW, Farmer JM: Randomized, double-blind, placebo-controlled study of interferon-γ 1b in Friedreich Ataxia. Ann Clin Transl Neurol 6(3): 546-553, Feb 2019.
Kelly Andrea, Shults Justine, Mostoufi-Moab Sogol, McCormack Shana E, Stallings Virginia A, Schall Joan I, Kalkwarf Heidi J, Lappe Joan M, Gilsanz Vicente, Oberfield Sharon E, Shepherd John A, Winer Karen K, Leonard Mary B, Zemel Babette S: Pediatric Bone Mineral Accrual Z-Score Calculation Equations and Their Application in Childhood Disease. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 34(1): 195-203, Jan 2019.