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 a 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.
Education and Training
MD - University of Pennsylvania School of Medicine, Philadelphia, PA
Pediatrics - Brown University/Hasbro Children's Hospital, Providence, RI
Neonatal-Perinatal Medicine - The Children's Hospital of Philadelphia, Philadelphia, PA
Neonatal-Perinatal Medicine – American Board of PediatricsPediatrics – American Board of Pediatrics
Titles and Academic Titles
Professor of Clinical Pediatrics, Perelman School of Medicine at the University of Pennsylvania Medical School
Departments and Services
Genetic basis of cardiac development
Molecular mechanisms of congenital heart disease with emphasis on DiGeorge Syndrome
Kozyak BW, Fraga MV, Juliano CE, Bhombal S, Munson DA, Brandsma E, Stoller JZ, Jain A, Kesman R, Meshkati M, Noh CY, Dewitt AG, Costarino AT, Hehir DA, Groves AM. Real-Time Ultrasound Guidance for Umbilical Venous Cannulation in Neonates With Congenital Heart Disease. Pediatr Crit Care Med. 2022 May 1;23(5):e257-e266. doi: 10.1097/PCC.0000000000002919. Epub 2022 Mar 7. PMID: 35250003.
Pawlowski TW, Stoller JZ, Rintoul NE, Hedrick HL, Quartermain MD, Fraga MV: Point-of-care Ultrasound for the Evaluation of Venous Cannula Position in Neonatal Extracorporeal Membrane Oxygenation. Journal of Perinatology 41(7): 1645-1650, 2021.
Stoller JZ, Fraga MV: Real-time ultrasound-guided lumbar puncture in the neonatal intensive care unit. Journal of Perinatology 41(10): 2495-2498, 2021.
Higher or Lower Hemoglobin Transfusion Thresholds for Preterm Infants. Kirpalani H, Bell EF, Hintz SR, Tan S, Schmidt B, Chaudhary AS, Johnson KJ, Crawford MM, Newman JE, Vohr BR, Carlo WA, D'Angio CT, Kennedy KA, Ohls RK, Poindexter BB, Schibler K, Whyte RK, Widness JA, Zupancic JAF, Wyckoff MH, Truog WE, Walsh MC, Chock VY, Laptook AR, Sokol GM, Yoder BA, Patel RM, Cotten CM, Carmen MF, Devaskar U, Chawla S, Seabrook R, Higgins RD, Das A; Eunice Kennedy Shriver NICHD Neonatal Research Network. N Engl J Med. 2020 Dec 31;383(27):2639-2651. doi: 10.1056/NEJMoa2020248. PMID: 33382931
Miller LE, Stoller JZ, Fraga MV. Point-of-care ultrasound in the neonatal ICU. Curr Opin Pediatr. 2019 Dec 13. doi: 10.1097/MOP.0000000000000863. [Epub ahead of print] PMID: 31851056
Machut KZ, Datta A, Stoller JZ, Rao R, Mathur A, Grover TR, Billimoria Z, Murthy K. Association of Neonatologist Continuity of Care and Short-Term Patient Outcomes. J Pediatr. 2019 Jun 11. pii: S0022-3476(19)30589-X. doi: 10.1016/j.jpeds.2019.05.023. [Epub ahead of print]
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. Physiol Genomics. 2014 Jul 1;46(13):457-66. Epub 2014 May 1.
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. 2013;8(2):e57032. doi: 10.1371/journal.pone.0057032. Epub 2013 Feb 21.
Stoller JZ, Demauro SB, Dagle JM, Reese J. Current Perspectives on Pathobiology of the Ductus Arteriosus. J Clin Exp Cardiolog. 2012 Jun 15;8(1). pii: S8-001.
Posters and Presentations
Pan H. Zhang T. De Mesmaeker J. Neve A, Benson MA, Latney BC, Werner P, Goldmuntz E, Bhattacharya S, Stoller, JZ. A Dominant Negative JUN mutant is associated with human congenital heart disease and alters a physical and functional interaction with TBX1 (Platform Presentation). Weinsten Cardiovascular Development Conference. 2013 May 16-18, Tucson, AZ.
Pan H, Zhang T, Kraft CA, Subbaraj I, De Mesmaeker J, Latney BC, Goldmuntz E, Bhattacharya S, Stoller, JZ. TBX1 Interacts with JUN and a Dominant Negative JUN Missense Mutation Is Associated with Congenital Heart Disease (Platform Presentation). Eastern Society for Pediatric Research. 2013 Mar 22, Philadelphia, PA.
Pan H, Zhang T, Kraft CA, Subbaraj I, De Mesmaeker J, Latney BC, Goldmuntz E, Bhattacharya S, Stoller, JZ. TBX1 Interacts with JUN and a Dominant Negative JUN Missense Mutation Is Associated with Congenital Heart Disease (Platform Presentation). Pediatric Academic Societies (PAS) Annual Meeting. 2013 May 4-7, Washington DC.
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