The work of several Mount Sinai researchers who analyze brain genomics data as part of the PsychENCODE Consortium, a collective established in 2015 by the National Institutes of Health (NIH), will be highlighted in four scientific papers to be published online December 13 in the journal Science as part of a special issue focused on big data.
The Icahn School of Medicine at Mount Sinai (ISMMS) is one of the lead sites associated with the PsychENCODE Consortium, a collaboration among NIH grantees that aims to accelerate discovery of non-coding functional genomic elements (components of an organism's DNA that do not encode protein sequences) and epigenetic modifications (reversible modifications on a cell's DNA or histones that affect gene expression without altering the DNA sequence) as they relate to gene expression patterns in the human brain and to understand the molecular pathophysiology of mental illness, particularly autism spectrum disorder, bipolar disorder, and schizophrenia.
Having analyzed more than 2,000 normal and disease-affected brains to date, the Consortium is publishing some of its initial findings in the December issue of Science, with multiple collaborative contributions by investigators from ISMMS, including laboratories from The Friedman Brain Institute and the Seaver Autism Center for Research and Treatment.
Below are descriptions of the studies that, with significant contributions by researchers from the Icahn School of Medicine at Mount Sinai, will be published in the journal:
Study Title: Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk
Schahram Akbarian, MD, PhD, Professor of Psychiatry and Neuroscience
Kristen Brennand, PhD, Professor of Neuroscience, Genetics and Genomic Sciences, Psychiatry
Study Title: Comprehensive functional genomic resource and integrative model for the human brain
Schahram Akbarian, MD, PhD, Professor of Psychiatry and Neuroscience
Panos Roussos, MD, PhD, Associate Professor of Genetics and Genomic Sciences, and Psychiatry
Study Title: Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences
Study Title: Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences
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