Japanese Journal of Biological Psychiatry
Online ISSN : 2186-6465
Print ISSN : 2186-6619
Identification of cell type‐specific autism risk factors by single‐cell, organoid studies
Jun Nomura
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2025 Volume 36 Issue 2 Pages 56-60

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Abstract
Single‐cell analysis, which enables genome‐wide gene expression analysis at the single‐cell resolution, identified more cell subtypes than we previously imagined. It has also contributed to identifying cell‐type‐specific risk genes in various disorders. In particular, it has proven to be an effective tool in identifying cell‐type‐specific pathologies in conditions such as “neurodevelopmental and neuropsychiatric disorders,” that cannot be fully explained by the deficit of neuropathologies. In 2015, the National Institute of Mental Health (NIMH) launched the PsychENCODE consortium, an interdisciplinary psychiatry consortium focused on neuropsychiatric disorders using large‐scale postmortem human brain data. The first phase of this initiative was published in Science in 2018, followed by phase 2 in 2024. Since PsychENCODE Phase 2 (PsychENCODE2) is a project focused on single‐cell and multi‐omics approaches, I will introduce new findings reported in the latest PsychENCODE2.
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© 2025 Japanese Society of Biological Psychiatry
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