From my first rotations as a medical student, I found caring for children to be the most rewarding area of medicine. Today, as a neonatologist and perinatal medicine specialist, I spend most of my clinical time in the Neonatal Intensive Care Unit (NICU).
The NICU is a truly special place to work. We care for critically ill infants with medical conditions ranging from prematurity to genetic syndromes. It’s gratifying to see some of the most fragile patients in the hospital flourish under our care and go on to lead happy, healthy and productive lives.
Although we are lucky to see so many of our patients thrive after leaving the NICU, as a researcher, I’ve always wanted to improve our understanding of the complex medical conditions that affect these infants — and ultimately provide better treatment options. Fortunately, we are currently in the midst of a revolution in genetics and genomics diagnostics in neonatology, as well as rapid advances in regenerative medicine. It is an exciting and satisfying time to be part of this field.
In my laboratory, we aim to better understand the etiology and pathogenesis of congenital malformations and perinatal lung disorders. Using a wide variety of tools from developmental biology, genetics and epigenetics, we’re investigating the molecular mechanisms underlying lung development, injury, repair and regeneration. Our primary focus is understanding the epigenetic mechanisms by which gene expression modules are established and maintained throughout the lung’s lifespan, and how changes in this “epigenetic code” contribute to pulmonary disease.
The research questions that we ask in the laboratory focus on core biological questions that may seem far removed from clinical care. However, by better understanding basic biology, we will be able to gain insight into the underlying causes of diseases affecting infants and children. This will help us pave the way for novel strategies that encourage the body to repair itself following an injury or disease process.
When I’m not busy in my research lab or the NICU, I also see families as a geneticist for prenatal consultations in the Cincinnati Children’s Fetal Care Center.
MD: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 2007.
Residency: General Pediatrics, Baylor College of Medicine & Texas Children’s Hospital, Houston, TX, 2007-2010.
Fellowship: Combined Fellowship in Neonatal-Perinatal Medicine and Medical Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, 2010-2015.
Board Certifications: General Pediatrics, 2010; Medical Genetics & Genomics, 2015; Neonatal-Perinatal Medicine, 2016.
General neonatology; genetic & genomic testing in the NICU; isolated and syndromic birth defects
Early endoderm and lung development; epigenetic regulation of gene expression; long non-coding RNAs; Congenital lung malformations; TEF/EA; VACTERL
Neonatology, Perinatal Biology, Pulmonary Biology
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Twin-twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene-environment interaction?. Prenatal Diagnosis. 2023; 43:1092-1095.
Sleep Apnea in Children With Down Syndrome. Pediatrics. 2023; 151:e2022058771.
Fetal maturation revealed by amniotic fluid cell-free transcriptome in rhesus macaques. JCI insight. 2022; 7:e162101.
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. The Journal of Pediatrics. 2022; 247:116-123.e5.
Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588.
Inflammatory blockade prevents injury to the developing pulmonary gas exchange surface in preterm primates. Science Translational Medicine. 2022; 14:eabl8574.
Preterm infant with diprosopus and holoprosencephaly. Clinical Case Reports. 2021; 9:e05163.
Beyond Diagnostic Yield: Prenatal Exome Sequencing Results in Maternal, Neonatal, and Familial Clinical Management Changes. Obstetrical and Gynecological Survey. 2021; 76:663-664.
In utero and post-natal development of the human lung and its defence mechanisms. Respiratory Diseases of the Newborn Infant. Baltimore, MD: European Respiratory Society (ERS); 2021.