The University of Tokyo · Graduate School of Medical Sciences / Faculty of Medicine · 特任准教授

Research keywords神経内科学・多系統萎縮症・ゲノム解析・治験・治療開発

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• Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.
• Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.
• A novel de novo disease-causing variant in ATL1 in a pediatric patient with spastic paraplegia
• Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

• GJA4遺伝子機能解析に基づく脳海綿状血管奇形の新規治療開発
• 先進ゲノム解析研究推進プラットフォーム
• 新規血管奇形原因遺伝子による疾患発症メカニズムの解明
• 日本神経学会神経内科専門医

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