Maria Karayiorgou, MD

  • Professor of Psychiatry at CUMC
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Maria Karayiorgou, M.D., is a Professor of Psychiatry and Acting Chief of the Division of Medical Genetics in the Department of Psychiatry at Columbia University. Her intellectual interest in Psychiatry led her to medical school and clinical training in Psychiatry, as well as academic research in Psychiatric Genetics at the Massachusetts Institute of Technology, the Fred Hutchinson Center and the Rockefeller University. She came to Columbia University as a Professor in 2006.

Specialties: Rare genetic variants in schizophrenia etiology.

Academic Appointments

  • Professor of Psychiatry at CUMC


  • Female


Dr. Karayiorgou's research program centers around the genetics of schizophrenia and aims to elucidate the genetic architecture of the disease and understand the underlying biology. To this end, she follows a number of complementary approaches designed to obtain convergent lines of evidence. Her approaches range from human genetic studies to animal model studies to clinical and translational neuroscience studies.

Dr. Karayiorgou identified the first robust genetic risk factor in schizophrenia (22q11.2 deletion) in 1995 (Karayiorgou et al. PNAS 92, 7612-6, 1995) and has consistently provided a number of important insights into the genetic architecture of schizophrenia by uncovering the importance of rare genetic variants via array scans and whole exome sequencing studies (Takata A, et al. Neuron. 2016 Mar 2;89(5):940-7; Takata A, et al. Neuron. 2014 May 21;82(4):773-80; Ionita-Laza I, et al. Proc Natl Acad Sci USA. 2014 Jan 7;111(1):343-8; Xu B, et al. Nat Genet. 2012 Dec;44(12):1365-9; Xu B, et al. Nat Genet. 2011 Aug 7;43(9):864-8; Xu B, et al. Nat Genet. 2008 Jul;40(7):880-5).

Research Interests

  • Genetics
  • Neuroscience
  • Translational studies

Selected Publications

  • Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M. : De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia. Neuron. 2016 Mar 2;89(5):940-7.
  • Takata A, Xu B, Ionita-Laza I, Roos JL, Gogos JA, Karayiorgou M. : Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene. Neuron. 2014 May 21;82(4):773-80.

  • Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M. Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. Proc Natl Acad Sci USA. 2014 Jan 7;111(1):343-8.

  • Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, Levy S, Gogos JA, Karayiorgou M. : De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet. 2012 Dec;44(12):1365-9.

  • Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA, Karayiorgou M. : Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet. 2011 Aug 7;43(9):864-8.

  • Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. : Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet. 2008 Jul;40(7):880-5.