Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders

Steven E Hyman

doi:10.1016/j.stem.2015.08.013

Enlisting hESCs to Interrogate Genetic Variants Associated with Neuropsychiatric Disorders

Cell Stem Cell. 2015 Sep 3;17(3):253-4. doi: 10.1016/j.stem.2015.08.013.

Author

Steven E Hyman¹

Affiliation

¹ Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address: [email protected].

PMID: 26340523
DOI: 10.1016/j.stem.2015.08.013

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.

Publication types

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MeSH terms

Cell Adhesion Molecules, Neuronal / genetics*
Humans
Mental Disorders / genetics*
Models, Biological*
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Synaptic Transmission*

Substances

Cell Adhesion Molecules, Neuronal
Nerve Tissue Proteins