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Marshall Summar, MD, Medical Genetics, Chevy Chase, MD

MarshallSummarMD

Medical Genetics Chevy Chase, MD

Clinical Biochemical Genetics, Clinical Genetics

Division Chief, Genetics and Metabolism Director: Rare Disease Institute

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  • Office

    5550 Friendship Blvd
    Ste 580
    Chevy Chase, MD 20815
    Phone+1 202-379-8295

Summary

  • Dr. Marshall Summar is a medical geneticist in Washington, DC and is affiliated with multiple hospitals in the area, including Children's National Health System and Children's National Health System. He received his medical degree from University of Tennessee College of Medicine and has been in practice 32 years. He specializes in clinical biochemical genetics and clinical genetics and is experienced in pediatric medical genetics.

Education & Training

  • Vanderbilt University
    Vanderbilt UniversityPost-Doctoral Fellowship, 1988 - 1990
  • Vanderbilt University Medical Center
    Vanderbilt University Medical CenterResidency, Pediatrics, 1985 - 1988
  • University of Tennessee Medical School
    University of Tennessee Medical SchoolBS, 1981 - 1985
  • University of Tennessee Health Science Center College of Medicine
    University of Tennessee Health Science Center College of MedicineClass of 1985
  • Vanderbilt University
    Vanderbilt UniversityBS, Molecular Biology, 1977 - 1981

Certifications & Licensure

  • VA State Medical License
    VA State Medical License 2010 - 2026
  • MD State Medical License
    MD State Medical License 2010 - 2025
  • DC State Medical License
    DC State Medical License 2010 - 2024
  • TN State Medical License
    TN State Medical License 1990 - 2011
  • American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

  • Best Doctors in America™ 2003, 2004, 2005, 2006, 2007, 2008, 2009, 2010, 2011, 2012, 2013, 2012-2017
  • Grant Liddle Research Award Vanderbilt University, 2005
  • Postdoctoral Fellowship, Diabetes Training Grant (NIH Grant T33DK070601) 1990
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Clinical Trials

Publications & Presentations

PubMed

Books/Book Chapters

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Lectures

  • Urea Cycle Disorders Treatment. 
    Yokahama Japan
  • Lessons from Rare Diseases. 
    Nemours Hospital
  • Candidate Disease Approach. 
    Houston Tx
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Other

  • Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification. 
    Perez Jurado, L. A., Phillips, J. A., III, Summar, M. L., Mao, J., Weber, J. L., Schaefer, F. V., Hazan, J., and Argente, J, Genomics.20:Pages:132-134. 3-1-1994.PM:8020943
  • Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. 
    Raskin, S., Cogan, J. D., Summar, M. L., Moreno, A., Krishnamani, M. R., and Phillips, J. A., III, Hum.Genet.98:Pages:703-705. 1996.PM:8931705
  • Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. 
    Repaske, D. R., Summar, M. L., Krishnamani, M. R., Gultekin, E. K., Arriazu, M. C., Roubicek, M. E., Blanco, M., Isaac, G. B., and Phillips, J. A., III, J.Clin.Endocrinol.Metab.81:Pages:2328-2334. 1996.PM:8964872
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Authored Content

  • WikipediaAugust 2018

Press Mentions

  • New Online Repository Offers Physicians Quick Guidance on Care of Rare Disease Patients
    New Online Repository Offers Physicians Quick Guidance on Care of Rare Disease PatientsMay 15th, 2024
  • Using Telehealth to Revolutionize the Speed of Making Rare Disease Diagnoses
    Using Telehealth to Revolutionize the Speed of Making Rare Disease DiagnosesAugust 27th, 2020
  • NORD’s Advice on COVID-19: You’re Stronger Than You Think
    NORD’s Advice on COVID-19: You’re Stronger Than You ThinkApril 7th, 2020
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Committees

  • Comissioner, Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. 2018 - Present
  • Chairman, Board of Directors, National Organization of Rare Diseses 2015 - Present
  • Chair, Scientific and Medical Advisory Committee, National Organization of Rare Diseases 2012 - Present
  • Member, Board National Organization for Rare Disorders 2012 - Present
  • member, Standing Committee on Newborn Screening, ACMG 2011 - Present
  • member, NIH Genetics Training Program 2010 - Present
  • President-Elect, Board of Directors, Society of Inherited Metabolic DIsorders 2006 - Present

Professional Memberships

  • Fellow
  • American Society of Human Genetics
    Member
  • American College of Medical Genetics
    Fellow
  • Society for Inherited Metabolic Diseases
    Member
  • Society for the Study of Inborn Errors of Metabolism
    Member