Professor of Psychiatry and Neurology
Main Office Address
Division of Neurobiology
Education and Government Service
Johns Hopkins University School of Medicine
Francis Scott Key Hospital
National Institute of Mental Health
Public Health Service
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.
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Click here for Hopkins Brain Wise Newsletter articles about Dr. Margolis' work
Holmes SE, O’Hearn 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.
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
Rudnicki DD, Holmes SE, Lin M, Thorton CA, Ross CA, Margolis RL. Huntington’s disease-like 2 is associated with CUG repeat containing RNA foci. Annals of Neurology, 61 (2007):272-82.
Rudnicki DD, Pletnikova O, Vansattel JP, Ross CA, Margolis RL. A comparison of Huntington’s disease and Huntington’s disease-like 2 neuropathology. Journal of Neuropathology and Experimental Neurology, 366-74.
Ross CA, Margolis RL. Schizophrenia: A point of disruption. Nature, 458 (2009):976-7