Icahn School of Medicine at Mount Sinai
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Focus Areas Psychiatric Genomics

Psychiatric Genomics

Psychiatric diseases can be devastating.  They are debilitating to patients, challenging to diagnose, and tough to treat. The tremendous biological complexity underpinning these diseases is only now coming to light, thanks to genetic advances, extremely large clinical studies, and cutting-edge technologies.

At the Icahn Institute for Genomics and Multiscale Biology, the Division of Psychiatric Genomics is dedicated to improving treatment options and care for the millions of patients affected by diseases such as schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder. Our goal is to shape the treatment of psychiatric patients in the future by using the tools of modern genomics to understand the biology and risk of developing psychiatric disease.

Our approach centers on pulling together all relevant data to build a comprehensive analysis that reveals the full biological picture of how these diseases function. We rely on the best and most innovative technologies, including DNA sequencing and advanced computational biology, to help answer these questions.

Current areas of research include: large scale genome-wide association studies; rare variant identification by next-generation sequencing; biological follow-up of candidate genes; transcriptional analysis of RNA from post-mortem human brain; and the generation and study of pathways and biology in induced pluripotent stem cells from patients.

The Psychiatric Genomics division also has an important translational component that takes new genetic advances and applies them to improved treatment for patients. Our molecular translational laboratories focus on understanding the pathobiology for each psychiatric disease, while our clinical trials conduct early-stage investigation of new treatments and tests for neuropsychiatric disorders. We will open a psychosis research clinic in the spring of 2014 to ensure that our research has a direct impact on patient care.


Schizophrenia is a chronic and severe mental illness that affects 1 percent of the global population, including 2.4 million American adults. Symptoms include persistent auditory and visual hallucinations, delusions, and paranoia, among others. Patients today are treated with antipsychotic therapies that have seen little innovation in the last twenty years.

Scientists from the Icahn Institute's Psychiatric Genomics division recently participated in the two largest exome studies of schizophrenia to date, which served to establish critical new scientific resources for the biomedical community and demonstrated that the disorder is likely caused by far more rare genetic mutations than previously suspected. Together, these studies sequenced the genes of nearly 7,000 people in Bulgaria and Sweden to determine the genetic differences between people with schizophrenia and healthy controls.

The clinical and genetic information gathered on more than 3,000 affected individuals has produced the world's largest database on schizophrenia, a resource that will be invaluable to the biomedical community in continued efforts to elucidate factors that contribute to the disease.

The studies also highlighted the possibility of more tailored treatment for patients; with so many rare mutations at play, future treatment of schizophrenia could include grouping patients into disease subtypes to deliver therapies that would be most effective.

Nature: A polygenic burden of rare disruptive mutations in schizophrenia
Nature: De novo mutations in schizophrenia implicate synaptic networks


View the Psychiatric Genomics website

View Dr. Sklar's lab website