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

Certifications & Licensure

MD State Medical License 2010 - 2025
DC State Medical License 2010 - 2024
VA State Medical License 2010 - 2024
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
Super Doctor SuperDoctors.com
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Clinical Trials

Urease Inhibitor Drug Treatment for Urea Cycle Disorders Start of enrollment: 2016 Mar 01
Citrulline for Children Undergoing Cardiopulmonary Bypass Surgery Start of enrollment: 2003 Dec 01
Completed
Phase 1, Phase 2
Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Start of enrollment: 2021 Mar 15
Terminated
Phase 2
A Dose Escalation Study of Intravenous L-citrulline in Steady-state Sickle Cell Disease Start of enrollment: 2015 Jan 01
Completed
Phase 1
A Phase 1 Study of Continuous Intravenous L-citrulline During Sickle Cell Pain Crisis or Acute Chest Syndrome Start of enrollment: 2016 Feb 01
Completed
Phase 1
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Publications & Presentations

PubMed

55 citations
Down Syndrome in diverse populations
Paul Kruszka, Antonio R. Porras, Andrew K. Sobering, Felicia Ikolo, Samantha La Qua
American Journal of Medical Genetics. Part A. 2017-01-01
19 citations
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Takeya Adachi, Ayman W El-Hattab, Ritu Jain, Katya A Nogales Crespo, Camila I Quirland Lazo
International Journal of Environmental Research and Public Health. 2023-03-08
51 citations
Williams–Beuren syndrome in diverse populations
Paul Kruszka, Antonio R. Porras, Deise Helena de Souza, Angélica Moresco, Victoria Huckstadt
American Journal of Medical Genetics. Part A. 2018-05-01

Books/Book Chapters

Clinical Evaluation of Renal Diseases in Children.
Chapter: The use of computers in clinical nephrology
Page 407 - 412Summar M. and Hakim REditors: AY Barakat, editor. Springer-Verlag.
Advanced Techniques in Chromosome Research.
Chapter: III: Molecular Techniques in Genetic and Chromosome Diagnosis
Page 3 - 32Summar M.L. and Phillips J.AEditors: KW Adolph, editor, Marcel Dekker.New York
Urea Cycle Disorders Overview.
Chapter: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]
Summar ML, Tuchman M
Urea Cycle Disorders Overview.
Chapter: GeneReviews at GeneTests: Medical Genetics Information Resource
Summar, MWashington
Liver Disease in Children.
Chapter: Urea Cycle Disorders
Page 858 - 871Summar, MEditors: Suchy, Frederick J.;Sokol, Ronald J.;Balistreri, William F.
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Lectures

Urea Cycle Disorders Treatment.
Yokahama Japan
Lessons from Rare Diseases.
Nemours Hospital
Candidate Disease Approach.
Houston Tx
Ross Metabolic Conference, Program Speaker.
Savannah GA
Conducting a Consensus Conference for a Rare Disease.
Washington D.C
Workup of Metabolic Disease in the Newborn
Charleston SC
Workup of the Dysmorphic Child.
Nashville TN
Use of Genetic Testing in 2012.
Dubai
Urea Cycle Disorders Outcomes and Treatment.
Taiwan
Disorders of Intermediary Metabolism.
Chuiaba Brazil
Current Research in urea cycle disorders
Cambridge, England
Urea Cycle Disruption in Rare and Common Conditions.
Kurume Japan
U.S. Progress in Urea Cycle Disorders.
Fukuoka Japan
Translational Research in IEMs.
Santiago Chile
Urea Cycle Disorders & Treatment.
Buenos Aires, Argentina
A Nontraditional Look at the Urea Cycle.
Kumamoto, Japan
Diagnosis and Treatment of Urea Cycle Disorders.
National Taiwan University Hospital
In Depth Protocols for Urea Cycle Treatment.
Hong Kong China
Diagnosis and Treatment of Urea Cycle Disorders.
Queen Mary Hospital, Hong Kong, China
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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
Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21.
Sierra-Rivera, E., Dasouki, M., Summar, M. L., Krishnamani, M. R., Meredith, M., Rao, P. N., Phillips, J. A., III, and Freeman, M. L, Cytogenet.Cell Genet.72:Pages:252-254. 1996.PM:8978789
Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia.
Summar, M., Pietsch, J., Deshpande, J., and Schulman, G, J.Pediatr.128:Pages:379-382. 1996.PM:8774510
Molecular cloning, sequencing, chromosomal localization, and tissue distribution of the human Na+/H+ exchanger (SLC9A2).
Ghishan, F. K., Knobel, S. M., and Summar, M, Genomics.30:Pages:25-30. 11-1-1995.PM:8595899
Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6.
Sierra-Rivera, E., Summar, M. L., Dasouki, M., Krishnamani, M. R., Phillips, J. A., and Freeman, M. L, Cytogenet.Cell Genet.70:Pages:278-279. 1995.PM:7789189
Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
Van Hove, J. L., Kishnani, P., Muenzer, J., Wenstrup, R. J., Summar, M. L., Brummond, M. R., Lachiewicz, A. M., Millington, D. S., and Kahler, S. G, Am.J.Med.Genet.59:Pages:444-453. 12-4-1995.PM:8585564
Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.
Lewanda, A. F., Green, E. D., Weissenbach, J., Jerald, H., Taylor, E., Summar, M. L., Phillips, J. A., III, Cohen, M., Feingold, M., Mouradian, W., Am.J.Hum.Genet.55:Pages:1195-1201. 1994.PM:7977380
Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy.
Hunley, T. E., Julian, B. A., Phillips, J. A., III, Summar, M. L., Yoshida, H., Horn, R. G., Brown, N. J., Fogo, A., Ichikawa, I., and Kon, V, Kidney Int.49:Pages:571-577. 1996.PM:8821846
Genes regulating glutathione concentrations in X-ray-transformed rat embryo fibroblasts: changes in gamma-glutamylcysteine synthetase and gamma-glutamyltranspeptidase ...
Sierra-Rivera, E., Meredith, M. J., Summar, M. L., Smith, M. D., Voorhees, G. J., Stoffel, C. M., and Freeman, M. L, Carcinogenesis.15:Pages:1301-1307. 1994.PM:7913422
Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.
Tiller, G. E., Polumbo, P. A., and Summar, M. L, Genomics.20:Pages:275-277. 3-15-1994.PM:8020975
The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci.
Summar, M. L, Brain Res.93:Pages:309-317. 1992.PM:1362280
Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.
Tuchman, M., Mauer, S. M., Holzknecht, R. A., Summar, M. L., and Vnencak-Jones, C. L, J.Inherit.Metab Dis.15:Pages:269-277. 1992.PM:1356172
In vivo molecular analysis of lymphokines involved in the murine immune response during Schistosoma mansoni infection. I. IL-4 mRNA, not IL-2 mRNA, is abundant in the ...
Henderson, G. S., Conary, J. T., Summar, M., McCurley, T. L., and Colley, D. G, J.Immunol.147:Pages:992-997. 8-1-1991.PM:1907310
Linkage analysis of the human dopamine beta-hydroxylase gene.Genomics.
Perry, S. E., Summar, M. L., Phillips, J. A., III, and Robertson, D, Genomics.10:Pages:493-495. 1991.PM:2071155
Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20.
Summar, M. L., Phillips, J. A., III, Battey, J., Castiglione, C. M., Kidd, K. K., Maness, K. J., Weiffenbach, B., and Gravius, T. C, Mol.Endocrinol.4:Pages:947-950. 1990.PM:1978246
Protein kinase C: a new linkage marker for growth hormone and for COL1A1.
Summar, M. L., Phillips, J. A., III, Krishnamani, M. R., Keefer, J., Trofatter, J., Schwartz, R. C., Tsipouras, P., Willard, H., and Ullrich, A, Genomics.5:Pages:163-165. 1989.PM:2570026
Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
Pearson, D. L., Dawling, S., Walsh, W. F., Haines, J. L., Christman, B. W., Bazyk, A., Scott, N., and Summar, M. L, N.Engl.J.Med.344:Pages:1832-1838. 6-14-2001.PM:11407344
Recommendations for locus-specific databases and their curation.
Cotton, R. G., Auerbach, A. D., Beckmann, J. S., Blumenfeld, O. O., Brookes, A. J., Brown, A. F., Carrera, P., Cox, D. W., Gottlieb, B., Greenblatt, M. S., Hilbert, P...., Hum.Mutat.29:Pages:2-5. 2008.PM:18157828
Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.
Eeds, A. M., Mortlock, D., Wade-Martins, R., and Summar, M. L, Am.J.Hum.Genet.80:Pages:740-750. 2007.PM:17357079
Neurological implications of urea cycle disorders.
Gropman, A. L., Summar, M., and Leonard, J. V, J.Inherit.Metab Dis.30:Pages:865-879. 2007.PM:18038189
The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
Eeds, A. M., Hall, L. D., Yadav, M., Willis, A., Summar, S., Putnam, A., Barr, F., and Summar, M. L, Mol.Genet.Metab.89:Pages:80-86. 2006.PM:16737834
The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation.
Kallianpur, A. R., Hall, L. D., Yadav, M., Byrne, D. W., Speroff, T., Dittus, R. S., Haines, J. L., Christman, B. W., and Summar, M. L, Bone Marrow Transplant.35:Pages:1155-1164. 2005.PM:15834437
Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency).
Loscalzo, M. L., Galczynski, R. L., Hamosh, A., Summar, M., Chinsky, J. M., and Thomas, G. H, Am.J.Med.Genet.A.128A:Pages:311-315. 7-30-2004.PM:15216554
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Authored Content

WikipediaAugust 2018

Press Mentions

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 DiagnosesAugust 27th, 2020
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