Jason Z Stoller, MD

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Associate Professor of Clinical Pediatrics
Department: Pediatrics

Contact information
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Main Building, 2NW56
Philadelphia, PA 19104
Office: 2155904393
B.A. (Physics)
University of Pennsylvania, 1994.
M.D. (Medicine)
University of Pennsylvania, 1999.
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Description of Research Expertise

I am a neonatologist with a research interest in the genetic basis of cardiac development and the molecular mechanisms of congenital heart disease. One of my research projects focuses on understanding DiGeorge syndrome, a relatively common syndrome affecting newborns. Patients with DiGeorge syndrome can have a wide variety of problems including deformities of the head and face, speech problems due to improper separation of the oral and nasal cavities, cleft palate, absence or incomplete development of the thymus and parathyroid glands, and problems with the aortic arch and outflow tract of the heart. The cardiac defects associated with the syndrome, often severe, are present in 75 percent of patients and contribute significantly to morbidity.

Most patients with DiGeorge syndrome carry a large genomic deletion of chromosome 22q11. One gene within this commonly deleted region is the transcription factor, TBX1. My colleagues and I identified the molecular mechanism by which a human TBX1 mutation results in DiGeorge syndrome. Additionally, through work with embryonic stem cells, we identified a new Tbx1 interacting protein that is critical for the earliest stages of embryonic development and may be important in understanding the function of Tbx1. Understanding the mechanisms of Tbx1 function will provide insight into both normal and abnormal cardiac development.

A second research project is to identify genes that are critical for differentiating the left sixth aortic arch artery into the ductus arteriosus. Patent ductus arteriosus, a condition in which a child’s ductus arteriosus does not close after birth, is major cause of neonatal morbidity and therapeutic options are limited. A better understanding of what differentiates the left sixth aortic arch artery from the other aortic arch arteries during development will elucidate potential targets for future pharmacologic treatment strategies and has the potential to improve long-term outcomes among extremely low birthweight neonates. Tools used for this project include RNA transcript microarrays and in vivo disease models.

Selected Publications

Huayan Zhang, Kathleen Nilan, Kevin Dysart, William Fox, Erik Jensen, Kathryn Maschhoff, David Munson, Jason Stoller, Haresh Kirpalani: Caring for Infants with Severe Chronic Lung Disease (CLD) - Five Year Experience of a Multidisciplinary Care Program. AAP National Conference 2016.

Erin K. Tkach, Jean Carroll, Christine Correale, Kevin Dysart, Michael Padula, David Munson, Jason Stoller, Maria Fraga, Lisa Tyler, Patricia Clifford, John Chuo: Reducing inhaled nitric oxide used in persistent pulmonary hypertension of the newborn. AAP National Conference 2016.

Rintoul N, Chuo J, French H, Stoller JZ, O'Connor T, McCormack D, Carroll JM: Safe Transitions and Euthermia in the Perioperative Period in Infants and Neonates. Quality and Patient Safety Day 2015. The Children's Hospital of Philadelphia 2015.

Napolitano N, Stoller JZ: PPHN: New Evidence-Based Approaches. eNeonatal Review Newsletter 10(9), 2015.

Christ L, Barber J, Murray A, Dunleavy M, Stoller JZ, Taha D, Brown-Jackson L, McElroy M, Posencheg M.: Reducing Intraventricular Hemorrhage in a Level III Neonatal Intensive Care Unit. BMJ Quality & Safety. 21st Annual Institute for Healthcare Improvement Scientific Symposium on Improving the Quality and Value of Health Care. 24(11): 731, 2015.

Shelton E, Ector G, Galindo C, Hooper C, Brown N, Wilkerson I, Pfaltzgraff E, Paria B, Cotton R, Stoller JZ, Reese J.: Transcriptional profiling reveals ductus arteriosus-specific genes that regulate vascular tone. Physiological Genomics. 46(13): 457-66, 2014.

Subbaraj I, Pan H, Zhang T, Stoller JZ: The Role of Jun in Aortic Arch Artery Formation and Remodeling (Platform Presentation). Eastern Society for Pediatric Research 2014.

Zhang T, Liu J, Zhang J, Thekkethottiyil EB, Macatee TL, Ismat FA, Wang F, Stoller JZ.: Jun is Required in Isl1-expressing Progenitor Cells for Cardiovascular Development. PLoS ONE. 8(2): e57032, 2013.

Stoller JZ, Huang L, Tan CC, Huang F, Zhou DD, Yang J, Gelb BD, Epstein JA: Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med J 235(5): 569-76, May 2010.

Stoller JZ and Epstein JA: Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Human Molecular Genetics 14(7): 885-92, 2005.

Stoller JZ, Degenhardt KR, Huang L, Lu MM and Epstein JA: Cre reporter mouse expressing a nuclear localized fusion of GFP and ß-galactosidase reveals new derivatives of Pax3-expressing precursors. Genesis 46(4): 200-204, 2008.

Tan CC, Sindhu KV, Li S, Nishio H, Stoller JZ, Oishi K, Puttreddy S, Lee TJ, Epstein JA, Walsh MJ, Gelb BD: Transcription Factor Ap2δ Associates with Ash2l and ALR, a Trithorax Family Histone Methyltransferase, to Activate Hoxc8 Transcription. Proc Natl Acad Sci U.S.A. 105(21): 7472-7, 2008.

High FA, Jain R, Stoller JZ, Antonucci NB, Lu MM, Loomes KM, Kaestner KH, Pear WS, Epstein JA: Murine Jagged1/Notch signaling in the second heart field orchestrates Fgf8 expression and tissue-tissue interactions during outflow tract development. J Clin Invest 119(7): 1986-96, 2009.

Stoller, JZ and Epstein, JA: Cardiac neural crest. Seminars in Developmental Biology 16(6): 704, 2005.

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Last updated: 03/11/2021
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