A Mount Sinai stem cell model may be able to shed light on the complex biology behind certain psychiatric disorders.
In order to map disease risk variants in human neurons, researchers from the Icahn School of Medicine at Mount Sinai used a unique stem cell model. This work may help shed light on the biological mechanisms behind neuropsychiatric diseases such as autism and schizophrenia.
The group’s in vitro cellular model, which was recently published in the journal Cell Reports, was created to make it easier for future researchers to understand the disease mechanisms involving genome-wide association studies (GWAS) that characterize various risk alleles (common genetic variants conferring risk) for psychiatric disorders. This study could help develop better diagnostic methods for spotting mental problems years before patient symptoms manifest.
The research focuses on identifying cis-regulatory elements in human neurons that could be related to the heritability of psychiatric disorders. Cis-regulatory elements, which include enhancers and promoters, are non-coding
In recent years, GWAS have identified hundreds of gene regions associated with psychiatric disease, although understanding disease pathophysiology has been elusive. The functional genomics approach Dr. Yang and her team developed uses stem cell models that can help resolve the impact of patient-specific variants across cell types, genetic backgrounds, and environmental conditions. This unique approach effectively lays a foundation to translate risk variants to genes, genes to pathways, and pathways to circuits that reveal the synergistic relationship between disease risk factors within and between the cell types in the brain.
“Our research attempts to decode and transfer highly complex genetic insights into medically actionable information,” says Dr. Yang, who is a member of the Black Family Stem Cell Institute, The Friedman Brain Institute, and The Ronald M. Loeb Center for