Research results utilizing the research resources of BioBank Japan (BBJ) have been published in Cell Genomics.

A joint research group led by Tomohiro Yada from Osaka University (PhD student at the Graduate School of Medicine at the time of research, now an invited faculty member in Neuropsychiatry) and Professor Yukinori Okada has conducted a GWAS meta-analysis in Japanese individuals (240 patients and 50,578 controls). Their study identified both germline and somatic mutations associated with the development of neuromyelitis optica spectrum disorders (NMOSD) and pinpointed the specific cell types in which these mutations influence gene expression levels.

Original Paper

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder
Cell Genom. 2025 Feb 17:100776

Press release article from Osaka University (Japanese only)

https://resou.osaka-u.ac.jp/ja/research/2025/20250222_1