Pankaj B. Agrawal MD MMSC (He/Him)

Summary

• I am Physician-in-Chief at Holtz Children's Hospital and UHealth Pediatrics at the University of Miami (UM). I am also the Division Chief of Neonatology, Project New Born Distinguished Chair, and Professor of Pediatrics and Genetics at the University of Miami/Jackson Health System. I am a physician scientist with research focused on application of genomics to neonatal care, the determination of genetic and molecular basis of various orphan diseases, and a special focus on congenital myopathies. Prior to moving to UM/Jackson, I was at Boston Children's Hospital (BCH) for 23 years. There I was the Medical Director of the Manton Center Gene Discovery Core (GDC) focused on determining the genetic basis of various rare diseases and Director of the Neonatal Genomics Program within the Division of Newborn Medicine. I have been an Associate Member of the Broad Institute of Harvard & MIT, an institute that brings together researchers from various disciplines at Harvard and MIT to accelerate genomic discoveries and conquer diseases. I have published 200+ original articles in several high impact journals including New England Journal of Medicine, Nature communications, JCI to name a few. I have been funded by various local sources, foundations, and NIH grants including R01, U19 and UM1 grants. I have pioneered identification of many novel genes, developed novel genomic approaches in newborn care, and advanced career of several fellows and junior faculty to obtain NIH funding. I am an Investigator for the Undiagnosed Disease Network (UDN) at Harvard Medical School, Center for Mendelian Genomics (CMG) at Broad Institute, which are NIH-funded collaborative projects. I have mentored several fellows and junior faculty who have successfully built their research careers by starting their own laboratories and or getting mentored and independent awards from the NIH. I have taught several courses including at BCH, MIT's Business School and Northeastern University.

Meet Dr. Pankaj Agrawal: Physician-in-Chief at Holtz Children's Hospital
Physician-in-Chief Dr. Pankaj Agrawal introduces his role at Holtz Children's Hospital and his commitment to innovation in pediatric care. From fetal surgery an

2025-2026 U.S. News & World Report Ranks Holtz Children's Hospital Among the Bes
Hospitals and programs are ranked based on clinical outcomes, patient safety, technology, specialized services and more.

Holtz NICU story published in Miami Herald
How one woman launched Project: Newborn and helped Miami's Holtz NICU grow into Florida's largest level 4 neonatal unit, serving families across the region.

From Desperation to Diagnosis: Rapid Genome Testing for Critically Ill Babies -
The science of discovering how genetic mutations can cause disorders and how to treat them is advancing rapidly.

The Genetic Cause of a Rare, Neurodevelopmental Disorder - InventUM
Dr. Pankaj Agrawal was part of an international research group that identified a mutated gene that deters neural development and function.

The Role of Constrained Genes in Cellular Function - InventUM
We have shown that missense and LOF constrained genes do not tolerate mutations, suggesting the critical roles they play in many cellular functions.
Team work between University of Miami and Holtz Children's Hospital at Jackson
excited to share the excellent outcome for one of our NICU babies...

Faster CF lung function declines linked with SLC26A9 gene mutations
Mutations in the SLC26A9 were associated with a more rapidly progressing CF disease course in patients with a common CFTR mutation.

Beyond Genomics: How Multiomics Can Improve Rare Disease Diagnostics - InventUM
In a review published in Pediatric Research, Miller School scientists explored how emerging technologies can help diagnose rare diseases.

Genomic Sequencing Can Rapidly Diagnose Infants with Hypotonia - InventUM
An international study shows exome/genome sequencing can quickly identify underlying diseases and determine the most appropriate treatments.

One in 8 Billion: Unique Gene Mutation Causes Retinal Disease - InventUM
Dr. Pankaj Agrawal and colleagues are studying mutations in the HBS1L gene that appear to affect only one person in the world.

Whole Genome Sequencing Proven Superior for Identifying Genetic Causes of Rare D
A research collaboration has shown that whole genome sequencing identifies causes of rare diseases better than whole exome sequencing.

Researchers Identify a Second Cystic Fibrosis Genetic Culprit - InventUM
Researchers at the Miller School of Medicine have shown that variants in gene SLC26A9 can worsen cystic fibrosis.

Remembering Riley - University of Miami Medicine Magazine
Thanks to the Riley's Dance fund, Ali and Bob for their support to our research!

New Insights into SPEG Protein and Muscle Disease - InventUM
4 years of hard work culminating in publishing this paper that identifies novel targets of SPEG deficiency, an ultra-rare genetic disorder!

Project VIGOR: Lifesaving Answers for NICUs - InventUM
Pankaj Agrawal, M.D., is part of the NIH-funded VIGOR team that is extending lifesaving genome sequencing to community NICUs.
VUS, genomics and rare diseases

Genomic Medicine Advances Neonatal Care - InventUM
In a peer-reviewed article, neonatologists from four organizations examined neonatal sequencing to see how it can be improved.

Because of Bella
Ryan and Rachel Belanger have a bittersweet relationship with Pankaj Agrawal, M.D., chief of the Division of Neonatology in the Miller School's Department

A perfect genetic hit: New gene mutation implicated in rare congenital diarrhea
Using patient-derived intestinal organoids in the laboratory, researchers have discovered a newly-identified gene mutation linked to congenital diarrhea.

Newborns with hypotonia may benefit from genomic sequencing - Boston Children's
When a baby is born with hypotonia, their future is hard to predict. A recent review argues for DNA sequencing as a first step.

Neurodevelopmental genes: Solving cold cases - Boston Children's Answers
Children with neurodevelopmental disorders are often negative on genetic testing. This team is changing is tracking their mutations down.

Solving genetic mysteries, in the NICU and beyond - Discoveries
This team of investigators is providing a genetic diagnosis for sick newborns and children whose prior genetic tests have come back negative.

Bringing genomics to community NICUs - Boston Children's Answers
A virtual platform is bringing genomics to NICUs in communities that tend to be underrepresented in genetic testing and research.

Some people with cystic fibrosis might live longer because of genetic mutations
Cystic fibrosis is an inherited disorder caused by genetic mutations that disrupt the normal movement of chloride in and out of cells. Among other health proble

A new neurodevelopmental epilepsy disorder and its genetic cause discovered
Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the gl

Dr. Pankaj Agrawal Is Appointed Chief of the Division of Neonatology - InventUM
Experienced investigator, Dr. Pankaj Agrawal, joins the University of Miami Miller School as the chief of the Neonatology Division.

Batchelor Awards Honor Spirit of Inquiry in Pediatrics - InventUM
Four Miller School physician-scientists have been honored with Micah Batchelor Awards for Excellence in Children's Health Research.

Orphan Disease Research | Agrawal Laboratory | Boston, Massachusetts
The Agrawal Laboratory is deciphering the mysteries of orphan diseases to develop better diagnostic tests, design precision medicine, and disseminate the geneti