PankajB.AgrawalMDMMSC(He/Him)

Neonat/Perinatology • North Miami Beach, FL

Birth Defect Genetics, Neonatal Respiratory Failure & Lung Development

Chief of Neonatology, Jackson Health and University of Miami

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Office
160 NW 170th St
North Miami Beach, FL 33169
Phone+1 617-919-2153

Summary

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. I moved to University of Miami/Jackson Health System as Division Chief and Professor in Feb 2023 from Boston Children's Hospital (BCH) after 23 years there. I continue to work with BCH as Visiting Scientist and Visiting Professor of Pediatrics at Harvard Medical School. I was the Medical Director of the Manton Center Gene Discovery Core (GDC) 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. 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.

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

Education & Training

Boston Children’s Hospital/Boston Medical CenterFellowship, Neonatal-Perinatal Medicine, 2000 - 2003
Harvard Medical SchoolMMSC, Biostatistics, Epidemiology, Clinical Trials, Genomics, 2003
Baroda Medical CollegeClass of 1991

Certifications & Licensure

FL State Medical License 2023 - 2025
MA State Medical License 2002 - 2025

Awards, Honors, & Recognition

NEST Award NICU, Boston Children's Hospital, 2006

Publications & Presentations

PubMed

149 citations
Newborn Sequencing in Genomic Medicine and Public Health.
Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner
Pediatrics. 2017-02-01
50 citations
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Klaus Schmitz-Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden
European Journal of Human Genetics. 2019-04-12
19 citations
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Paul C Marcogliese, Samantha L Deal, Jonathan Andrews, J Michael Harnish, V Hemanjani Bhavana
Cell Reports. 2022-03-15

Journal Articles

KCTD7 Deficiency Defines a Distinct Neurodegenerative Disorder with a Conserved Autophagy‐Lysosome Defect
Marsha Pratt, Katrina Peariso, Adam L Hartman, Adolfo Garnica, Satish Agadi, Gerard T Berry, Tobias Loddenkemper, Thomas A Burrow, Pankaj B Agrawal, Annals of Neurology
De Novo Variant in KIF26B Is Associated with Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy
Pankaj B Agrawal, Vinodh Narayanan, Monica H Wojcik, Sanjay P Prabhu, American Journal of Medical Genetics Part A
Expanding the Phenotypic Spectrum Associated with OPHN1 Variants
Jonathan D Picker, Ingrid A Holm, Monica H Wojcik, Pankaj B Agrawal, ScienceDirect
Expanding the Phenotype Associated with NEFL Mutation: Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings
Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis, Klaus Schmitz-Abe, Pedro DSC Ciarlini, Jane C. Sargent, Kyriacos Markianos, Umberto De Girolami, David A. Chad..., Jamaneurol, 1/29/2014
Cytoplasmic Glycerol-3-phosphate Dehydrogenase Deficiency Presents with Massive Hepatomegaly, Steatohepatitis and Hypertriglyceridemia in an Infant
Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai, Stephanie A. Newton, Meghan C. Towne, Nicholas Marinakis, Kristyn M. Esteves, Sarah De Ferranti, Michael J. Bennett, Ad..., Eur J Hum Genet, 1/19/2014
SPEG Interacts with Myotubularin (MTM1) And Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Go..., Am J Hum Genet, 1/7/2014
Neonatal Ciliopathy: A Rare Presentation of NPHP3 Mutation Leading to Multi-organ Polycystic Disease
Kristen T. Leeman, Lori Dobson, Dmitry Dukhovny, Joan Stoler, Pankaj B. Agrawal, J Perinatol, 1/1/2014
Rare Complete Loss-of-function Provides Insight into a Pleiotropic Genome-wide Association Study Locus
Vijay G. Sankaran, Mugdha Joshi, Akshat Agrawal, Klaus Schmitz-Abe, Meghan C. Towne, Nicholas Marinakis, Kyriacos Markianos, Gerard T. Berry, Pankaj B. Agrawal, Blood, 1/1/2013
A Mutation in KCNJ8 Causes Cantu Syndrome- Support for Role of KATP Channels in This Condition
Brownstein CA, Connolly MC, Luquette LJ, Harris D, Kutsche K, Campeau P, Yu T, Margulies DM, Agrawal PB, Beggs AH, Euro J Med Genet, 1/1/2013
Stimulating Erythropoeisis in Neonates
Vijay G. Sankaran and Pankaj B. Agrawal, American J of Hematology, 1/1/2013
Whole Genome Sequencing Identifies SCN2A Mutation in Monozygotic Twins with Ohtahara Syndrome and Unique Neuropathological Findings
Touma M, Joshi M, Connolly, MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB, Epilepsia, 1/1/2013
Congenital Myopathy Caused by a Novel Missense Mutation in the CFL2 Gene
Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NVAM, Lammens M, van Alfen N, Neuromusc Disorders, 1/1/2012
Normal Myofibrillar Development Followed by Progressive Sarcomeric Disruption with Actin Accumulations in a Mouse Cfl2 Knockout Demonstrates Requirement of Cofilin-2 f...
Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH, Hum. Mol. Genet., 1/1/2012
Novel CHD7 and FBN1 Mutations in an Infant with Multiple Congenital Anamolies
Chiu CH, Thakuria J, Agrawal PB, Ind. J. Pediatr, 1/1/2010
Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy
Pierson CR, Agrawal PB, Blasko J, Beggs AH, Neuromuscul. Disord, 1/1/2007
Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-binding Protein, Cofilin-2
Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR and Beggs AH, Am. J. of Hum. Genet, 1/1/2007
X-linked Myotubular and Centronuclear Myopathies
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH, J. Neuropathol. Exp. Neurol, 1/1/2005
Heterogeneity of Nemaline Myopathy Cases with Skeletal Muscle A-actin Gene Mutations
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH, Ann. Neurol, 1/1/2004
Isolation Pattern and Clinical Outcome of Genital Mycoplasma in Neonates from a Tertiary Care Neonatal Unit
Sethi S. Sharma M. Narang A. Aggrawal PB, J. Trop. Pediatr, 1/1/1999
Epidemiology of Systemic Candidiasis in a Tertiary Care Neonatal Unit
Narang A, Agrawal PB, Chakrabarti A, Kumar P, J. Trop. Pediatr, 1/1/1998
Fluconazole
Agrawal PB, Narang A & Kumar P, Ind. J. Pediatr, 1/1/1996
Fluconazole in the Management of Neonatal Systemic Candidiasis
Narang A, Agrawal PB, Chakrabarti A, Kumar P, Ind. Pediatr, 1/1/1996
Host Factors and Pneumonia in Hospitalized Children
Agrawal PB. Shendurnikar N. Shastri NJ, JIMA, 1/1/1995
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Books/Book Chapters

Manual of Neonatal Care
Chapter: Shock
Agrawal PBEditors: Cloherty JP, Eichenwald EC, Hansen AR, Stark AR.Lippincott Manual Series, PhiladelphiaEdition 7th,2011
Primary Care of the Premature Infant
Chapter: Surgical Issues: Cryptorchidism, Inguinal and Umbilical Hernias
Page 245 - 250Agrawal PBEditors: Brodsky D, Ouellette MA.Saunders Elsevier, PhiladelphiaEdition 1st,2008
Manual of Neonatology
Chapter: Perinatal Asphyxia
Agrawal PB and Aslam MEditors: Vineet Bhandari.PeePee Publishers and Distributors, New DelhiEdition 1st,2008
Current Issues in Pediatrics
Chapter: Neonatal Necrotizing Enterocolitis. Recent Developments
Page 254 - 271Agrawal PB, Singh MEditors: Shendurnikar N, Thacker N.Paras Medical Publisher, HyderabadEdition 1st,2005
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Abstracts/Posters

SPEG Interacts with Myotubularin and its Deficiency causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Mogdhadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B Yau KS, Allcock RJN, Laing NG, Perrella ..., New Directions in Biology and Disease of Skeletal Muscle Conference, Chicago, 1/29/2014
Frataxin, a Fredrich's Ataxia Protein Is Defective in Mitochondrial Processing Peptidase-alpha (PMPCA) Mutations
Agrawal PB, Joshi M, Anselm I, Giani F, Towne MC, Schmitz-Abe K, Markianos K, Sankaran VG., American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA, 1/18/2014
The Gene Discovery Core: Four Years of Experience in Determining the Genetic Basis for Orphan Diseases
Towne MC, Brownstein CA, Marguiles DM, Beggs,AH, Agrawal PB, American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA, 1/18/2014
Lack of HBS1L Protein in a Patient With Multiple Congenital Anomalies Is Not Associated With a Hematological Phenotype
Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT and Agrawal PB, Pediatric Academic Societies' Annual Meeting, Vancouver, 1/3/2014
Rare Phenotypes
Agrawal PB, Vancouver, Canada, 1/1/2014
Genome Sequencing in Identifying the Genetic Basis of Disease in a Pediatric Population With Undiagnosed
Agrawal PB, Vancouver, Canada, 1/1/2014
Efficacy and Cost Effectiveness of Whole Exome
Agrawal PB, Vancouver, Canada, 1/1/2014
Joshi M, Eagan J, Newton SA, Connolly M, Desai NK, deFerranti SD, Berry GT, Agrawal PB, Pediatric Academic Societies' Annual Meeting, Washington DC, 1/4/2013
Utility of Genomic Sequencing To Identify Genetic Basis of Rare Diseases: 2 Years Experience
Agrawal PB, Pediatric Academic Societies' Annual Meeting, Washington DC, 1/1/2013
p.A35T-Cfl2 Knock-in Mouse Model of Human Mutation Causes Severe Myopathy
Agrawal PB, Joshi MM, Savic T, Beggs AH, Pediatric Academic Societies' Annual Meeting, Boston, MA, 1/28/2012
Cofilin-2 Deficiency Is Associated with Severe Myofibrillar Disruption and Weakness, Defective Alveolar Development, and Cardiac Degeneration in a Mouse Model
Agrawal PB, Joshi MM, Fernandez-Gonzalez A, Kourembanas S, Beggs AH, Pediatric Academic Societies' Annual Meeting, Boston, MA, 1/28/2012
Cofilin-2 Deficiency in Zebrafish Using Morpholino Knockdown Causes Muscle Disease Partially Rescued by Human Cofilin-2
Joshi MM, Gupta V, Beggs AH, Agrawal PB, Pediatric Academic Societies' Annual Meeting, Boston, MA, 1/28/2012
Whole Exome Sequencing Reveals Novel and Known Genes Mutations, in a Cohort of Centronuclear Myopathy Patients
Agrawal PB, Ceyhan O, Schmitz K, Dechene E, Viola M, Markianos K, Beggs AH, American Society of Human Genetics (ASHG) Annual Meeting, San Francisco, CA, 1/6/2012
Cofilin-2 Deficiency Causes Severe Myopathy in a Knockout Mouse Model
Agrawal PB, Pediatric Academic Societies' Annual Meeting, Denver, Colorado, 1/1/2011
Cofilin-2 Deficiency Causes Severe Myopathy with Sarcomeric Disruptions, Absent Z-lines, Nemaline Bodies and F-actin Accumulations in a Knockout Mouse Model
Agrawal PB, 36th Annual New England Conference on Perinatal Research, Chatham, MA, 1/1/2010
Comprehensive Multidisciplinary Infection Control Initiatives Reduce Neonatal Catheter-Associated Blood Stream Infections in a NICU
Agrawal PB, 33rd Annual New England Conference on Perinatal Research, Chatham, MA, 1/1/2007
A Family with Nemaline Myopathy and Minicores due to a Mutation in CFL2
Agrawal PB, 32nd Annual New England Conference on Perinatal Research, Newport, RI, 1/1/2006
Clinical, Pathological and Molecular Findings in Nemaline Myopathy Cases Caused by Mutations in the Skeletal Muscle Actin Gene
Agrawal PB, Clinical Research Annual Meeting, Baltimore, Maryland, 1/1/2003
Genotype Phenotype Correlation in Individuals with Nemaline Myopathy Due to Skeletal Muscle Actin Gene Mutations
Agrawal PB, Pediatric Academic Societies' Annual Meeting, Seattle, Washington, 1/1/2003
Minicore Myopathy: Clinical & Genetic Heterogeneity and Isolation of Candidate Genes
Agrawal PB, 28th Annual New England Conference on Perinatal Research, Chatham, MA, 1/1/2002
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Lectures

Cord Blood Banking: To Do or Not to Do. Complex Neonatal and Pediatric Cases: Approach and Answers. Trends in Neonatology: An Open Discussion
Indian Academy of Pediatrics, Delhi - 1/1/2014
Pediatric Academic Societies' Annual Meeting
Vancouver, Canada - 1/1/2014
An Update and Sharing Few Interesting Cases from the Gene Discovery Core
Partners Healthcare, Cambridge MA - 1/1/2014
Gene Discovery Core: A Resource for Clinicians, Researchers and Families
Division of Genetics and Genomics, Boston Children's Hospital - 1/1/2014
Genetic and Molecular Basis of Rare Diseases in Children and "Genomic" Newborn Screening
1/1/2014
Genetics and Neonatal Diseases
Patna, India - 1/1/2014
Meet the Experts: Newer Antiepileptics- Hope or Hype? Neonatal ECMO. Stem Cells in Newborn-bench to Bedside
Patna, India - 1/1/2014
"Fishing" for Genes: Genetic and Molecular Basis for Orphan Diseases
Division of Neonatology, Boston Children's Hospital - 1/1/2013
Single Families with a Genetic Defect: Manton Experience
Division of Genetics and Genomics, Boston Children's Hospital - 1/1/2013
A Unique Case of Ohtahara Syndrome in Monozygotic Twins: Next Gen. Sequencing Approach to Identify the Causative Gene Mutation
Department of Neurology, Boston Children's Hospital - 1/1/2012
Gene Discovery Core: At the Forefront of Research in Rare Diseases
Boston Children's Hospital - 1/1/2012
Genetic and Molecular Basis of Neuromuscular Diseases in Children
Boston Children's Hospital - 1/1/2011
Cofilin-2: Human Disease and Animal Models
Division of Genomics, Dept. of Medicine, Boston Children's Hospital - 1/1/2011
The Manton Center: A Home for Orphan Diseases
Boston Children's Hospital - 1/1/2010
Bedside to Bench: Identifying Genetic
Department of Neonatology, Beth Israel Hospital, Boston - 1/1/2010
Molecular Basis for Orphan Diseases
Department of Neonatology, Beth Israel Hospital, Boston - 1/1/2010
Cofilin-2 deficiency: Human Disease and Animal Models
Department of Medicine, Boston Children's Hospital - 1/1/2010
Infection Control in the NICU-Experiences and Learning
Charlton Memorial Hospital, Fall River, MA - 1/1/2010
Cofilin-2 Deficiency Causes Severe Myopathy with Actin Accumulations in a Knockout Mouse Model
Department of Medicine, Boston Children's Hospital - 1/1/2009
Central Line-associated Blood Stream Infections in the NICU: Quality Improvement (QI) Initiatives & Outcomes
Department of Medicine, Boston Children's Hospital - 1/1/2009
Introduced the Practice of Mindfulness Meditation for CHB Employees
NICU, Boston Children's Hospital - 1/1/2008
Genetic Basis of Congenital Myopathies
Brigham and Women's Hospital Boston - 1/1/2007
Interviewed for Preemie Magazine regarding How to Navigate the First Year of Specialists after Discharge
1/1/2007
Identification of Cofilin-2 Gene, CFL2, as a Probable Sixth Gene Mutated in Nemaline Myopathy
Dallas - 1/1/2006
Medication Error in a Neonate with Inborn Error of Metabolism
Boston Children's Hospital - 1/1/2006
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Other

Ending Diagnostic Odysseys:Clinical and Research Experiences with Genomic Sequencing
ACMG Genomics Case Conference Webinar
1/1/2014
14 Health Care Innovation Predictions for 2014
Children's Hospital "Vectorblog"
1/1/2014
Multiminicore Disease
Agrawal PB, Beggs A, GeneReviews at GeneTests: Medical Genetics Information Resource, Washington, Seattle
http://www.genetests.org
1/1/2013
Cold Case: Hospital DNA Sequencing Program Open for Business
Children's Hospital "Vectorblog"
1/1/2012
Clinical Guidelines for "Percutaneous Central Line Placement in Neonates"
NICU
Clinical Guidelines for "Extubation Readiness in Ventilated Infants"
NICU, Boston Children's Hospital
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Press Mentions

Genetic Sequencing May Open Doors for Newborns with HypotoniaNovember 1st, 2022
Where Things Break: The Problem of Rare DiseaseSeptember 18th, 2018

Grant Support

VIGOR: Virtual genome center in infant healthNHGRI/NIH2021–2026
SPEG is critical in skeletal muscle development and functionNIAMS/NIH2015–2020
Cofilin-2: Molecular Function And It'S Role In MyopathiesNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2007–2011