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Pankaj Agrawal, MD, Neonat/Perinatology, Miami, FL

PankajB.AgrawalMDMMSC(He/Him)

Neonat/Perinatology • Miami, FL

Birth Defect Genetics, Neonatal Respiratory Failure & Lung Development

Chief of Neonatology, Holtz Children's Hospital/Jackson Health System and University of Miami, Professor of Pediatrics and Genetics, Univ. of Miami

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  • Office

    1611 NW 12th Ave, #7007
    Miami, FL 33136
    Phone+1 617-721-2262

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

Certifications & Licensure

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

Awards, Honors, & Recognition

  • NEST Award NICU, Boston Children's Hospital, 2006

Publications & Presentations

PubMed

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
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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
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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
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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
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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
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Press Mentions

  • Genetic Sequencing May Open Doors for Newborns with Hypotonia
    Genetic Sequencing May Open Doors for Newborns with HypotoniaNovember 1st, 2022
  • Where Things Break: The Problem of Rare Disease
    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

Dr. Pankaj Agrawal, Dr. Pankaj Agrawal, MD, Dr. P Agrawal, Dr. Pankaj B. Agrawal