Roles
Chief, Division of Neonatology
Project NewBorn Distinguished Chair in Neonatology
Physician-in-Chief Holtz Children’s Hospital, Jackson Health System
Professor of Clinical Pediatrics
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Biography
Dr. Pankaj Agrawal is a physician-scientist with research focused on the application of genomics and multi-omics in neonatal care and the determination of the genetic and molecular bases of various orphan diseases, with a particular focus on congenital myopathies. Dr. Agrawal moved from Boston Children's Hospital (BCH) in 2023 where he was the Merton Bernfield Chair of Newborn Medicine and Associate Professor of Pediatrics at Harvard Medical School (HMS). Dr. Agrawal was the Medical Director of the Manton Center Gene Discovery Core at BCH focused on determining the genetic basis of various rare diseases and Director of the Neonatal Genomics Program within the Division of Newborn Medicine.
Currently, Dr. Agrawal is the visiting scientist at BCH, visiting Professor at HMS and Affiliate member of Broad Institute at MIT and Harvard. He has published > 175 papers in high impact journals including NEJM, JCI, JACC, JAMA Neurology among others. Dr. Agrawal has been funded with NIH R01, U01 and K08 grants and currently a PI for the R01 funded VIGOR (Virtual genome center for infant health) project. He has mentored several fellows and junior faculty who have successfully built their research careers by starting their own laboratories and or getting funding awards from the NIH. -
Education & Training
Education
Post Graduate Training
Licensures and Certifications
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Honors & Awards
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Research Interests
Dr. Agrawal’s research is focused on three major areas: 1) Genetic and molecular basis of various congenital myopathies (CM). We have discovered several genes mutated in CM. One of the genes that we are working on is called SPEG, which when mutated causes centronuclear myopathy with or without dilated cardiomyopathy. We have created cellular and mouse models of SPEG deficiency and working on developing novel therapies 2) Genetic basis of various rare diseases. We have discovered more than 50 novel genes over more than a decade and continue to focus on gene discovery and functional genomics related to various neurodevelopmental and congenital disorders. 3) Applications of genomics in neonatal care. This includes implementing rapid genome sequencing in resource-limited NICUs, the role of genome sequencing in newborn screening, and understanding the genetics of disorders associated with prematurity. -
Publications
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