Schizophrenia

Psychotic disorders, like schizophrenia and bipolar disorder, disturb particularly human aspects of perception and cognition. The overall burden of suffering for patients, their families, and society is huge. These disorders have proven resistant to the best neurobiological and genetic experimental strategies, and many of the key issues that could lead to improved diagnosis and treatment are still not understood. However, there is now growing cause for optimism. In the last decade, we have moved from knowing nothing about the types and number of genetic loci involved in these diseases to having a substantial understanding of their genetic risk factors. At the Icahn School of Medicine at Mount Sinai, we have assembled a diverse team of both basic and clinical researchers to translate these research findings into clinical care.

Areas of Research and Clinical Focus

Both schizophrenia and bipolar disorder are strongly familial, but until recently have proven resistant to genetic methodologies for identifying their etiology. The emergence of strong and convincing genetic evidence indicates a contribution of many DNA changes to the risk of becoming ill, along with increasing evidence for epigenetic mechanisms at work. We are deeply involved in large-scale genomic and epigenomic studies of these diseases that we expect will lead to important new insights into their causes.

At the Blau Center, we have initiated a patient recall program through which we are implementing a new study design: the population-driven, family-based genetic study. From Icahn Mount Sinai’s large, diverse biobank BioMe® established in 2007 that contains over 60,000 consenting patients’ whole exome sequencing data, we have identified roughly 70 individuals so far who are carriers for ultra-rare protein-truncating variants that confer risk for schizophrenia. With the launch of the Mount Sinai Million Health Discoveries Program that aims to sequence 1,000,000 Mount Sinai patients, the patient pool from which we can identify carriers will increase dramatically. The goal of this program is to deliver gene-based therapy to patients.

Scientists in this research area include:

Schizophrenia and bipolar disorder are diseases of abnormal development and functioning of synaptic circuitry. Our researchers are developing state-of-the-art neural stem cell models, as well as pursuing more traditional approaches, including neuroimaging.

Scientists in this research area include:

Our work is focused on translating basic findings from genetics into actionable treatment trials. We have established a Psychosis Research Program devoted to applying the best new practices emerging from basic and translational studies to patient care. Our scope is broad and includes studies and researchers at the James J. Peterson Veterans Affairs Medical Center in the Bronx and the Mount Sinai Health System.

Scientists in this research area include: