Jeffrey David Roizen, M.D., Ph.D.

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Assistant Professor of Pediatrics
Department: Pediatrics
Graduate Group Affiliations

Contact information
The Children's Hospital of Philadelphia
3401 Civic Center Blvd.
Division of Endocrinology and Diabetes
11th Floor/NWT/Suite 30
Philadelphia, PA 19104
Office: 215-590-3174
Fax: 215-590-3053
Lab: 267 678 3597
BA (Chemistry and Biology (double major))
Williams College, Williamstown, MA, 2000.
Washington university School of Medicine, St. Louis, MO, 2008.
PhD (Molecular and Cell Biology)
Washington University School of Medicine, St. Louis, MO, 2008.
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Description of Research Expertise

My long term goals as a clinician scientist are 1) to advance our understanding of vitamin D metabolism and of the role of vitamin D in physiology and 2) to apply mechanistic insights gained from this understanding to develop and modify rational, targeted and effective therapeutic interventions to improve the health of patients with endocrine disease.

Our labs current efforts have focused on the role of CYP2R1 in vitamin D metabolism and physiology. This work leverages observations from genomic studies to try to understand the biochemistry of 25-hydroxylation of vitamin D.

Selected Publications

Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA.: CYP3A4 mutation causes vitamin D-dependent rickets type 3. Journal of Clinical Investigation Feb 2018 Notes: doi: 10.1172/JCI98680.

Hong J, Hatchell KE, Bradfield JP, Andrew B, Alessandra C, Chao-Qiang L, Langefeld CD, Lu L, Lu Y, Lutsey PL, Musani SK, Nalls MA, Robinson-Cohen C, Roizen JD, Saxena R, Tucker KL, Ziegler JT, Arking DE, Bis JC, Boerwinkle E, Bottinger EP, Bowden DW, Gilsanz V, Houston DK, Kalkwarf HJ, Kelly A, Lappe JM, Liu Y, Michos ED, Oberfield SE, Palmer ND, Rotter JI, Sapkota B, Shepherd JA, Wilson JG, Basu S, de Boer IH, Divers J, Freedman BI, Grant SFA, Hakanarson H, Harris TB, Kestenbaum BR, Kritchevsky SB, Loos RJF, Norris JM, Norwood AF, Ordovas JM, Pankow JS, Psaty BM, Sanhgera DK, Wagenknecht LE, Zemel BS, Meigs J, Dupuis J, Florez JC, Wang T, Liu CT, Engelman CD, Billings LK.: Trans-ethnic Evaluation Identifies Novel Low Frequency Loci Associated with 25-Hydroxyvitamin D Concentrations. J Clin Endocrinol Metab. (eds.). Jan 2018 Notes: doi: 10.1210/jc.2017-01802. [Epub ahead of print]

Xi D, Long C, Lai M, Casella A, O’Lear L, Kublaoui B, Roizen JD: Ablation of oxytocin neurons causes a deficit in cold stress response. J. Endocr. Soc. 1(7), July 2017 Notes: doi: 10.1210/js.2017-00136.

Roizen, JD*, Hysinger EB*, Mentch, F, Connolly, J, Bradfield, JP, Almoguera, B, Allen, J, Levine, MA, Hakonarson, H. : The Causal Relationship of Vitamin D and Asthma: A Cross-sectional and Mendelian Randomization Analysis. Journal of Allergy and Clinical Immunology 138(6): 1747-1749, Dec 2016 Notes: *co-first authors.

Roizen JD, Danzig J, Groleau V, McCormack S, Casella A, Harrington J, Sochett E, Tershakovec A, Zemel BS, Stallings VA, Levine MA: Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. The Journal of clinical endocrinology and metabolism 101(3): 880-8, Mar 2016.

Thacher TD, Fischer PR, Singh, RJ, Roizen J, Levine MA: CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. The Journal of clinical endocrinology and metabolism 100(7): E1005-13, Jul 2015.

Roizen J, Levine MA: A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. The Journal of clinical endocrinology and metabolism 99(12): 4555-64, Dec 2014.

Roizen JD, Shah V, Levine MA, Carlow DC: Determination of reference intervals for serum total calcium in the vitamin D-replete pediatric population. The Journal of clinical endocrinology and metabolism 98(12): E1946-50, Dec 2013.

Roizen J, Xi D, Lai M, Gandhi N, Kublaoui B: Paraventricular nucleus Sim1 neuron ablation mediated obesity is resistant to high fat diet. PLoSOne. PLOS, 8(11): e81087, 11 2013.

Roizen JD, Asada M, Tong M, Tai HH, Muglia LJ: Preterm birth without progesterone withdrawal in 15-hydroxyprostaglandin dehydrogenase hypomorphic mice. Molecular endocrinology (Baltimore, Md.) 22(1): 105-12, Jan 2008.

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Last updated: 09/05/2018
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