Psychiatric Genomics

The mission of the Division of Psychiatric Genomics is to apply genetic insights to the clinical practice of psychiatry. Ours is a molecular, genomic, and translational focus. We aim to break down barriers to collaboration through support of highly interdisciplinary research.

Psychiatric disease remains a relatively uncharted frontier in medicine. The major psychiatric diseases affect a significant proportion of Americans, and the costs in terms of lost years of productivity are enormous for patients and their families.

Researchers across the Mount Sinai Health System are making progress in understanding the genetic architecture of many conditions. Our work in the Division of Psychiatric Genomics has three major areas of focus that are critical to progress in the future:

  • Genetics and genomics
  • Molecular translational laboratories, including a focus on plasticity, neurodevelopment, and neural stem cells
  • Clinical trials

Our division goal is to shape future treatment of psychiatric patients using the tools of modern genomics to understand biological bases and risks of developing psychiatric disease.

Genetics and Genomics

Today, large-scale genomic studies are detecting genes linked to several psychiatric diseases including autism, bipolar disorder, and schizophrenia. Our researchers are leading initiatives to obtain genomic sequence data from thousands of affected individuals with these illnesses, which will increase the number of genes we find to examine. This is proving to be a highly complex genetic landscape, and we need to reexamine existing approaches that model changes in multiple, intricate ways.

Pamela Sklar, MD, PhD, Chief of the Division of Psychiatric Genomics and Professor of Psychiatry, Neuroscience, and Genetic and Genomic Sciences, is a neuroscientist, human geneticist, and clinical psychiatrist investigating the genetic causes of psychiatric disorders, including schizophrenia and bipolar disorder. A major focus of her prior work at the Broad Institute and Harvard Medical School was to identify susceptibility genes for psychiatric diseases by applying tools developed for understanding and characterizing human sequence variation.

Dr. Sklar joined the Icahn School of Medicine as a Professor of Psychiatry, Neuroscience, and Genetic and Genomic Sciences. She moved to Mount Sinai in 2011 from Harvard Medical School, Massachusetts General Hospital, and the Broad Institute of MIT and Harvard. In Boston, she was a founding member of the Stanley Center for Psychiatric Research at the Broad Institute and served as its Director of Genetics for the Stanley Center from 2007-2010. Dr. Sklar has long been involved in genetic studies of bipolar disorder and schizophrenia through her leadership positions in the Systematic Treatment Enhancement Program for Bipolar Disorder (STEP-BD) genetics program, the International Schizophrenia Consortium (ISC), the International Cohort Collection for Bipolar Disorder (ICCBD), and the Psychiatric Genome-wide association disorder consortium (PGC).

Among her recent accomplishments, Dr. Sklar:

  • Developed a world-renowned program for genetic study of schizophrenia and bipolar disorder
  • Led the identification of two novel deletions strongly associated with schizophrenia and gave strong confirmation of chr22 as a risk factor for schizophrenia
  • Discovered that schizophrenia is caused by genetic risk factors that overlap with bipolar disorder
  • Led the identification of the first replicated genetic finding in bipolar disorder (ANK3)
  • Developed new programs in genetics and translational research in the areas of next-generation sequencing, stem cell biology, proof-of-concept drug trials, and large-scale sample collections

Dr. Sklar earned her BA in Classics and Philosophy from St. John's College. She received an MD and PhD in Neuroscience from Johns Hopkins Medical School. She completed clinical training in Psychiatry at Columbia Presbyterian Hospital and the New York State Psychiatric Institute in Manhattan and postdoctoral training in the laboratory of Richard Axel at Columbia University.

The laboratories of the Psychiatric Genomics Division in the Department of Psychiatry investigate the genetics of psychiatric health and disease.

Cognition in Psychiatry

The laboratory of Katherine E. Burdick, PhD, focuses on better understanding the neurocognitive dysfunction in major psychiatric disorders, including bipolar disorder and schizophrenia. We use several genetic approaches to elucidate the biological underpinnings of these disorders and their associated impairment. Among these are both family-based data collection and molecular genetic case-control association analyses.

Neurodevelopment and Plasticity

The Morishita Laboratory aims to provide neurodevelopmental understanding of the emerging risk genes for psychiatric diseases. We take an integrated approach, combining molecular, anatomical, electrophysiological, and behavioral methodologies using mouse models and human samples. Our goal is to effectively modulate key neurodevelopmental events during adolescent critical period for preventive and therapeutic purposes.

Statistical Genetics

The Purcell Laboratory in the Center for Statistical Genetics focuses on developing statistical and computational tools for the design of genetic studies, the detection of gene variants influencing complex human traits, and the dissection of these effects in the larger context of other genetic and environmental factors. In particular, in close collaboration with the Division of Psychiatric Genomics, we currently work on whole exome resequencing and whole genome association studies of bipolar disorder and schizophrenia. We are also developing tools for whole genome and exome genetic studies.

Stem Cells

The laboratory of Kristen Brennand, PhD, focuses on modeling psychiatric disorders using stem cell derived neurons with particular focus on schizophrenia.

Molecular Translational Laboratories

We are working to connect genetic vulnerability loci with underlying molecular mechanisms in order to understand the pathobiology of each psychiatric disease. This will provide biological insight and lead to more appropriate targeting of proteins for therapeutic development.

Clinical Trials

We lead cutting-edge clinical trials of psychiatric disease by performing early-stage investigation of new treatments and tests for neuropsychiatric disorders. We direct our efforts to accelerate the translation of genetic and other laboratory discoveries to the clinical level.

 Meet the faculty who facilitate outstanding training and education in psychiatric genomics.