Roles
Professor of Clinical Pediatrics and Genetics
Chief, Division of Neonatology
Project NewBorn Distinguished Chair in Neonatology
-
Biography
I am 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. I moved from Boston Children's Hospital (BCH) in 2023 where I was the Merton Bernfield Chair of Newborn Medicine and Associate Professor of Pediatrics at Harvard Medical School (HMS). I 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, I am the visiting scientist at BCH, visiting Professor at HMS and Affiliate member of Broad Institute at MIT and Harvard. I have published > 175 papers in high impact journals including NEJM, JCI, JACC, JAMA Neurology among others. I have 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 I have 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
-
Honors & Awards
No result found
-
Research Interests
My research interests include genomics, multiomics, rare diseases, congenital myopathies, diagnosis of undiagnosed conditions, neonatal applications of genomics and multiomics, gene discovery, and functional genomics. -
Publications
Disclaimer: The information presented in this section has been consolidated using AI and machine learning technologies. While every effort has been made to ensure accuracy, errors may occur. If you identify any inaccuracies, please use this link to inform our data team. Your feedback is greatly appreciated and helps us improve the quality of our content.