Rchr
J-GLOBAL ID:201101044298930742
Update date: Sep. 27, 2024
Awaya Tomonari
アワヤ トモナリ | Awaya Tomonari
Affiliation and department:
Job title:
Associate Professor
Research field (8):
Medical biochemistry
, Clinical pharmacy
, Physiology
, Neuroscience - general
, Fetal medicine/Pediatrics
, Fetal medicine/Pediatrics
, Anatomy
, Anatomy
Research keywords (28):
developmental delay
, developmental disorders
, anatomy
, genetic diseases
, rare diseases
, inherited metabolic disorders
, chromosomal abnormality
, congenital anomaly
, human embryonic stem cells
, patient-derived iPS cells
, human induced pluripotent stem cells
, regenerative medicine
, myogenesis
, muscular dystrophy
, brain
, pediatrics
, neuromuscular disorders
, gender
, development
, stem cells
, medical genetics
, brain science
, 発生
, 神経
, pediatric neurology
, skeletal muscle
, induced pluripotent stem cells
, embryonic stem cells
Research theme for competitive and other funds (10):
- 2021 - 2026 Synthetic investigation of pathological phase separation of RNA-binding proteins
- 2022 - 2025 Elucidation of pathophysiology of Aicardi-Goutieres syndrome by cellular engineering technology
- 2022 - 2025 Understanding the molecular pathomechanisms of neurodevelopmental disorders through identification of developmental CNS subsets by single cell analysis
- 2019 - 2022 Drug development for Alzheimer-like dementia related to Down syndrome using iPSC-derived cortical organoid
- 2015 - 2020 Therapeutic Drug Discovery and Elucidation of RNA Disease Pathogenesis by Use of CRISPR-Based Disease iPS Cells and Animal Models
- 2016 - 2019 Drug screening system development for skeletal muscle diseases using human iPSC
- 2013 - 2015 Disease modeling of genetic muscular disorders using patient-derived induced pluripotent stem cells
- 2012 - 2015 Selective Development of Myogenic Mesenchymal Cells from Human Embryonic and Induced Pluripotent Stem Cells
- 2012 - 2014 Modeling Duchenne muscular dystrophy using patient-derived iPS cells
- 2011 - 2012 Isolation of myogenic stem/progenitors fromhuman ES/iPS cells.
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Papers (74):
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Masahiro Hirai, Ayaka Ikeda, Takeo Kato, Takahiro Ikeda, Kosuke Asada, Yoko Hakuno, Kanae Matsushima, Tomonari Awaya, Shin Okazaki, Toshihiro Kato, et al. Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome. Journal of autism and developmental disorders. 2024
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Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara. PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing. BMC Genomics. 2023. 24. 1
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Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, et al. Branchpoints as potential targets of exon-skipping therapies for genetic disorders. Molecular therapy. Nucleic acids. 2023. 33. 404-412
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Motoyasu Hosokawa, Ryuta Mikawa, Atsuko Hagiwara, Yukiko Okuno, Tomonari Awaya, Yuki Yamamoto, Senye Takahashi, Haruka Yamaki, Mitsujiro Osawa, Yasuhiro Setoguchi, et al. Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC. iScience. 2023. 107731-107731
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Eisho Kanemitsu, Xiangdong Zhao, Keiko Iwaisako, Asuka Inoue, Akihide Takeuchi, Shintaro Yagi, Hidetoshi Masumoto, Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, et al. Antagonist of sphingosine 1-phosphate receptor 3 reduces cold injury of rat donor hearts for transplantation. Translational research : the journal of laboratory and clinical medicine. 2022
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MISC (119):
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大原寛明, 大原寛明, 大原寛明, 細川元靖, 粟屋智就, 高橋良輔, 小笠原真志, 野口悟, 後藤雄一, 西野一三, et al. ブランチポイントをターゲットにした筋ジストロフィーのスプライス異常の修復. 日本筋学会学術集会プログラム・抄録集. 2021. 7th
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Ryo Kimura, Roy Lardenoije, Kiyotaka Tomiwa, Yasuko Funabiki, Masatoshi Nakata, Shiho Suzuki, Tomonari Awaya, Takeo Kato, Shin Okazaki, Toshiya Murai, et al. INTEGRATED EPIGENETIC ANALYSIS OF WILLIAMS SYNDROME. EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2019. 29. S242-S243
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粟屋智就, 都築千鶴, 佐古有季哉, 網代将彦, 斎藤潤, 萩原正敏. スプライス操作化合物RECTASを用いたファブリー病IVS4+919G>A変異に対する治療開発. 日本小児遺伝学会学術集会プログラム・抄録集. 2019. 41st. 56
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岡崎 哲也, 粟屋 智就, 林 雅晴, 小牧 宏文, 盛一 享徳, 掛江 直子. 結節性硬化症データを用いた小児慢性特定疾病対策登録データの有用性の検討. 脳と発達. 2018. 50. Suppl. S359-S359
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神田健志, 佐藤彩, 安部大輔, 西島節子, 石上毅, 古川央樹, 粟屋智就, 寺澤厚志, 桑原直樹. 合併する複雑心奇形により乳児期死亡に至った1p36欠失症候群の男児例. 日本小児科学会雑誌. 2018. 122. 2. 454-454
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Patents (1):
Education (1):
- 1997 - 2003 Kyoto University Faculty of Medicine
Professional career (2):
- M.D. (Kyoto University)
- Ph.D. (Kyoto University)
Work history (8):
- 2023/10 - 現在 Kyoto University Graduate School of Medicine Center for Anatomical, Pathological, and Forensic Medical Researches Associate Professor
- 2021/04 - 2023/09 Kyoto University Graduate School of Medicine Laboratory of Tumor Microenvironment and Immunity Junior Associate Professor
- 2017/04 - 2021/03 Kyoto University Graduate School of Medicine Translational Research Department for Skin and Brain Diseases Assistant Professor
- 2019/08 - 2020/08 University of California, San Diego Department of Medicine Visiting scholar
- 2016/07 - 2017/03 Kyoto University Graduate School of Medicine Department of Anatomy and Developmental Biology Assistant Professor
- 2010/05 - 2016/06 Kyoto University Graduate School of Medicine Department of Pediatrics Assistant Professor
- 2010/05 - 2016/06 Department of Pediatrics, Kyoto University Hospital Assistant Professor
- 2007/04 - 2010/04 Kyoto University Graduate School of Medicine
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Association Membership(s) (13):
World Muscle Society
, アメリカ人類遺伝学会
, The Japan Society of Pediatric Genetics
, JAPANESE TERATOLOGY SOCIETY
, International Child Neurology Society
, THE JAPANAESE SOCIETY OF INFLAMMATION AND REGENERATION
, 日本遺伝子診療学会
, JAPANESE SOCIETY FOR INHERITED METABOLIC DISEASES
, JAPAN EPILEPSY SOCIETY
, THE JAPAN SOCIETY OF HUMAN GENETICS
, THE JAPANESE SOCIETY OF CHILD NEUROLOGY
, 日本小児科学会
, The Japanese Association of Anatomists
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