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Photo of Dr. Russell Margolis

Russell Louis Margolis, M.D.

Clinical Director, Johns Hopkins Schizophrenia Center
Professor of Psychiatry and Behavioral Sciences


Appointment Phone


Main Location

The Johns Hopkins Hospital

Out-of-State & International Patients +
Out of State Patients

Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

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International Patients

Call +1-410-502-7683 (7a.m. to 6p.m., EST, Mon-Fri)

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  • Clinical Director, Johns Hopkins Schizophrenia Center
  • Director, Laboratory of Genetic Neurobiology
  • Co-Director, Division of Neurobiology
  • Co-Director, Baltimore Huntingtons Disease Center
  • Professor of Psychiatry and Behavioral Sciences
  • Professor of Neurology

Centers & Institutes



The Johns Hopkins Hospital

Appointment Phone: 410-955-5212

600 N. Wolfe Street
Sheikh Zayed Tower
Baltimore, MD 21287 map
Phone: 410-614-4262


Adult Psychiatry , Bipolar Disorder, Depression, Huntington's Disease, Huntington's Disease-Like 2, Mood Disorders, Psychiatry, Schizoaffective Disorder, Schizophrenia, Spinocerebellar Ataxia Type 12

Research Interests

schizophrenia: genetics, pathogenesis, neuroimaging; Huntington's disease: pathogenesis, clinical trials; Huntington's disease-like 2; spinocerebellar ataxia type 12; RNA toxicity

    Additional Information

  • Education +


    • Johns Hopkins University School of Medicine / MD (1986)


    • Johns Hopkins University School of Medicine / Psychiatry (1990)


    • American Board of Psychiatry & Neurology / Psychiatry-General (1991)
  • Research & Publications +

    Research Summary

    My research interests revolve around the interface of psychiatry, neurology, and genetics. A major focus is on the etiology, pathogenesis, and psychiatric aspects of neurodegenerative disorders affecting the cerebellum and basal ganglia, including Huntington’s disease, Huntington’s disease-like 2 (discovered by our group), and the cerebellar ataxias. A second emphasis is on the genetic etiology and pathogenesis of schizophrenia, including the role of rare mutations of major effect, the potential utility of induced pluripotent stem cells as disease models, and novel approaches to mutation detection. We are particularly interested in the etiologic and pathogenic properties of unstable DNA, RNA toxicity, and bidirectional transcription. My clinical interests include schizophrenia, affective disorders, and neuropsychiatry.


    Learn more about Dr. Margolis' research

    Selected Publications View all on PubMed

    1. Holmes SE, O''Hearn E, McInnis MG, Kwak NG, Gorelick-Feldman DA, Kleiderlein JK, Callahan C, Sherr M, Sharp AH, Sumner AJ, Ashworth RG, Ananth U, Seltzer W, Vieria-Saecker AM, Epplen JT, Reiss O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5'' region of PPP2R2B is associated with SCA12, Nature Genetics, 23 (1999): 391-392.
    2. Margolis RL, OHearn E, Rosenblatt A, Willour V, Holmes SE, Franz ML, Callahan C, Hwang HS, Troncoso JC, Ross CA. A disorder similar to Huntingtons disease is associated with a novel CAG repeat expansion. Annals of Neurology, 50 (2001):373-380.
    3. Holmes SE, OHearn E, Callahan C, Hwang HS, Rosenblatt A, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT, Ross CA, Margolis RL. A CTG trinucleotide repeat expansion in Junctophilin 3 is associated with Huntington''s Disease-Like 2 (HDL2). Nature Genetics, 29 (2001): 377-378.
    4. Margolis RL, Holmes SE, Rosenblatt A, Gourley L, OHearn E, Ross CA, Seltzer WK, Walker RH, Ashizawa T, Rasmussen A, Hayden M, Almqvist EW, Harris J, Fahn S, Macdonald ME, Mysore J, Shimohata T, Tsuji S, Potter N, Nakaso K, Adachi Y, Nakashima K, Bird T, Krause A, Greenstein P. Huntingtons disease-like 2 (HDL2) in North America and Japan. Annals of Neurology, 56(2004):670-674
    5. Sachs NA, Sawa A, Holmes SE, Ross CA, DeLisi LE, Margolis RL. A frameshift mutation in Disrupted in Schizophrenia 1 segregates with schizophrenia and schizoaffective disorder in an American family. Molecular Psychiatry 10(2005) 758-64
    6. Rudnicki DD, Holmes SE, Lin M, Thorton CA, Ross CA, Margolis RL. Huntingtons disease-like 2 is associated with CUG repeat containing RNA foci. Annals of Neurology, 61 (2007):272-82.
    7. Rudnicki DD, Pletnikova O, Vansattel JP, Ross CA, Margolis RL. A comparison of Huntingtons disease and Huntingtons disease-like 2 neuropathology. Journal of Neuropathology and Experimental Neurology, 67(2008):366-74
    8. Bruce HA, Sachs NA, Rudnicki DD, Lin SG, Willour VL, Cowell JK, Conroy J, McQuaid D, Rossi M, Gaile DP, Nowak NJ, Holmes SE, Sklar P, Ross CA, DeLisi LE, Margolis RL. Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatric Genetics, in press.
    9. Ross CA, Margolis RL, Reading SAJ, Pletnikov M, Coyle JT. Neurobiology of Schizophrenia, Neuron, 52 (2006):139-53
    10. Margolis, RL. The choice of antipsychotics in schizophrenia. Nature Neurology Reveiws, in press.
    11. Ross CA, Margolis RL. DISC1 and GSK3beta: New Pathways and Novel Therapeutic Targets for Schizophrenia and Bipolar Disorder, Nature News and Views, in press
  • Academic Affiliations & Courses +
  • Activities & Honors +


    • Cannon Memorial Prize, 1982
    • Senior Book Award, 1982
    • Dennison Research Scholarship, 1983
    • Research Scholarship, American Heart Association, 1983
    • Deans award for research, 1984
    • Rock Sleyster Memorial Scholarship, 1986
    • Pharmacology Research Associate Program fellowship, 1990 - 1992
    • Clinician Scientist Award, Johns Hopkins, 1994
    • Scientist Development Award, NIMH K21, 1995
    • Young Investigator Award, NARSAD, 1995
    • reviewer, FONDS FCAR (Canada), 1996
    • grant reviewer, Comitato Promotore Telethon (Italy), 1998
    • Independent Investigator Award, NARSAD, 1999
    • Ad Hoc reviewer, NIH BDCN3, 2000
    • Guest Editor, International Rev Psychiatry, 2001
    • Pathology Credentials Committee, 2001
    • Admissions Committee, CMM, 2002
    • Lieberman Award, Hereditary Disease Foundation, 2002
    • Independent Investigator Award, NARSAD, 2003
    • reviewer, National Ataxia Found, 2006 - 2009
    • NARSAD Distinguished Investigator Award, 2007
    • reviewer, Canadian Found. for Innovation, 2007
    • Committee Chair, Canadian Found. for Innovation, 2008
    • Advisory Board, National Ataxia Found, 2009


    • American Psychiatric Association
  • Videos & Media +
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