Russell Louis Margolis, MD

Professional Titles

• Clinical Director, Johns Hopkins Schizophrenia Center
• Director, Laboratory of Genetic Neurobiology
• Director, Schizoaffective Disorder Precision Medicine Center of Excellence
• Co-Director, Division of Neurobiology

Primary Academic Title

Professor of Psychiatry and Behavioral Sciences

Background

Centers and Institutes

• Huntington's Disease Center
• Schizophrenia Center

Additional Academic Titles

Professor of Neurology

Research Interests

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

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 and Huntington’s disease-like 2 and spinocerebellar ataxia type 12 (both discovered by our group). We are particularly interested in the etiologic and pathogenic properties of unstable DNA, RNA toxicity, and bidirectional transcription. A second emphasis is on the genetic etiology and pathogenesis of schizophrenia, particularly the role of rare mutations of major effect, using cell and mouse models. A third interest, the focus of the Schizoaffective Disorder Precision Medicine Center of Excellence, is in understanding different subtypes of schizophrenia and schizoaffective disorder as defined by treatment responsiveness. Approaches include cognitive and clinical assessments, advanced MRI and EEG measures, biochemical analysis of patient-derived cells, and mining of large data sets.  Related projects include the development of new MRI and EEG methodology.  A fourth area of research, facilitated by our participation in a consortium of recent onset psychosis clinics in Maryland and Pennsylvania, focuses on diagnosis and care delivery to individuals with schizophrenia and schizoaffective disorder. Please visit my lab website, the Schizoaffective Disorder Precision Medicine Center of Excellence, and Connection Learning Health System (recent onset psychosis clinic consortium) for more information.

PubMed

https://www.ncbi.nlm.nih.gov/sites/myncbi/1-QMg6fz6pWQo/bibliography/51141190/public/?sort=date&direction=ascending

Selected Publications

• Coulter C, Baker KK, Margolis RL. Specialized Consultation for Suspected Recent-onset Schizophrenia: Diagnostic Clarity and the Distorting Impact of Anxiety and Reported Auditory Hallucinations. J Psychiatr Pract. 25(2019):76-81.

• 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

• Hua J, Blair NIS, Paez A, Choe A, Barber AD, Brandt A, Lim IAL, Xu F, Kamath V, Pekar JJ, van Zijl PCM, Ross CA, Margolis RL. Altered functional connectivity between sub-regions in the thalamus and cortex in schizophrenia patients measured by resting state BOLD fMRI at 7T. Schizophr Res. 2019 Apr;206:370-377.

• Li PP, Margolis RL. Use of single guided Cas9 nickase to facilitate precise and efficient genome editing in human iPSCs. Sci Rep. 2021 May 10;11(1):9865.

• 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.

Honors

• Central Maryland HDSA Annual Award,, 1/1/12
• NARSAD Distinguished Investigator Award, 1/1/07
• Independent Investigator Award, NARSAD, 1/1/03
• Lieberman Award, Hereditary Disease Foundation, 1/1/02
• Independent Investigator Award, NARSAD, 1/1/99
• Young Investigator Award, NARSAD, 1/1/95
• Scientist Development Award, NIMH K21, 1/1/95
• Clinician Scientist Award, Johns Hopkins, 1/1/94
• Pharmacology Research Associate Program fellowship, 1/1/90
• Rock Sleyster Memorial Scholarship, 1/1/86
• Deans award for research, 1/1/84
• Dennison Research Scholarship, 1/1/83
• Research Scholarship, American Heart Association, 1/1/83
• Cannon Memorial Prize, 1/1/82

Memberships

• American Psychiatric Association
• Maryland Psychiatric Association
• Schizophrenia International Research Society
• Society for Neuroscience