The 70th Annual Meeting of the Japan Society of Human Genetics
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Session Details

Poster Session

[P2-10]Poster Session 2-10　Therapeutics of Genetic Disorders

Fri. Dec 19, 2025 5:50 PM - 6:50 PM JST
Fri. Dec 19, 2025 8:50 AM - 9:50 AM UTC
Poster Room 2 (315, 3F, PACIFICO Yokohama)

[P2-10-1]G-Quadruplex-Based Splice Switching as a Therapeutic Approach in Duchenne Muscular Dystrophy

Taro Ishiguro, Ryo Iwase (Institute of Science Tokyo, Department of Neurology and Neurological Science)

[P2-10-2]Clinical and characteristics of pheochromocytoma and paraganglioma in the Adolescent and Young Adult generation

Chihiro Toyoda, Dai Takeuchi, Kana Kawabe, Saki Shimoyama, Nao Torii, Gai Inaguma, Misato Yamamoto, Yuri Ozaki, Kayoko Sugino, Reiko Ohata, Takahiro Ichikawa, Madoka Iwase, Yuko Takano, Toyone Kikumori (Department of Breast and Endocrine Surgery, Nagoya University Hospital, Aichi, Japan)

[P2-10-3]Full-field Stimulus Test in RPE65-retinopathy and RPGR-retinopathy: Establishment of endpoint for ocular gene therapy

Kaoru Fujinami1,2,3,4,5,6,7,8,9,10, Yu Fujinami-Yokokawa1,3,7, Yasutaka Suzuki1, Jeffery Farmer8, Kazuki Yamazawa2, Haruka Murakami2, Satomi Inoue2, Tatsuo Matsunaga2,9, Kazushige Tsunoda10 (1.Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan, 2.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 3.Department of Genetics, UCL Institute of Ophthalmology, London, UK, 4.Moorfields Eye Hospital, London, UK, 5.Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan, 6.Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan, 7.Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan, 8.Diagnosys LLC, MA, USA, 9.Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan; Medical Genetics Center, NHO Tokyo Medical Center, Tokyo, Japan, 10.Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan)

[P2-10-4]Development of an artificial antisense oligonucleotide (ASO) based therapeutics for treating trichothiodystrophy (TTD)

Yuka Nakazawa1,2,3, Ye Lin1,2, Kana Kato2, Mayuko Shimada2, Tomoo Ogi2,3,4,5 (1.Department of Molecular Genetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 3.Center for One Medicine Innovative Translational Research (COMIT), Gifu University Institute for Advanced Study, Gifu, Japan, 4.Department of Human Genetics, Graduate School of Medicine, Nagoya University, Nagoya, Japan, 5.Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research (iGCORE), Tokai National Higher Education and Research System, Nagoya, Japan)
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