Hyman SE. Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders. Cell Stem Cell. 2015 Sep 03; 17(3):253-4.

Citation

Hyman SE. 2015. Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders. Cell stem cell. 17(3):253-4. Pubmed: 26340523 DOI:S1934-5909(15)00368-9

Abstract

Connecting rare genetic variants to neuropsychiatric disease mechanisms remains a significant challenge. In this issue of Cell Stem Cell, Pak et al. (2015) combine gene targeting and stem cell technologies to identify a significant cellular effect of rare penetrant NRXN1 mutations in human neurons, which was found to cause a defect in neurotransmitter release.

Related Faculty

Steven Hyman, M.D.

Hyman Research

Steven Hyman is Director of the Stanley Center for Psychiatric Research at the Broad Institute and Chair of the Schizophrenia Spectrum Biomarkers Consortium (SSBC), a consortium identifying objective biomarkers to enable better diagnosis of and treatment for schizophrenia and related illnesses.