Session Details

[O10]一般演題(口演)10 遺伝・遺伝子異常②

Thu. Jun 5, 2025 2:35 PM - 3:35 PM JST
Thu. Jun 5, 2025 5:35 AM - 6:35 AM UTC
第6会場
座長:山形 崇倫(栃木県立リハビリテーションセンター小児科),小島 華林(自治医科大学小児科)

[O10-01]VarMeter: development of a novel effect evaluation programme for genome missense variants

Tadashi Kaname1,2, Yoshiki Yamaguchi3, Eriko Aoki4, Noriyoshi Manabe3, Shiho Ohno3, Taiga Aoki1, Junichi Furukawa5, Akira Togayachi4, Jinichi Inokuchi6, Kiyoko Kinoshita4, Shoko Nishihara4 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Allergy Center, National Center for Child Health and Development, Tokyo, Japan, 3.nstitute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Miyagi, Japan, 4.GaLSIC, Soka University, Tokyo, Japan, 5.iGCORE, Nagoya University, Aichi, Japan, 6.FRC, Osaka University, Osaka, Japan)

[O10-02]A phase 1/2 open-label trial of GTX102, an antisense oliogonucleotide, for patients with Angelman syndrome

Kimimasa Tobita1,2, Tricia Cimms2, Syeda Rahman2, Angel Chen2, Wen-Hann Tan3, Kenneth Myers4, Elizabeth Berry-Kravis5, Laurent Servais6, Erick Sell7, Kimberly Goodspeed2 (1.Tokyo, Japan, 2.Ultragenyx Pharmaceutical Inc., Novato, CA, US, 3.Boston Children's Hospital, 4.Research Institute of McGill University Heath Center, Montreal, Quebec, Canada, 5.Rush University Medical Center, Chicago, US, 6.University of Oxford, Oxford, UK, 7.University of Otawa, Children's Hospital of Eastern Ontario)

[O10-03]A case of X-linked Charcot-Marie-Tooth disease in a boy with spasticity, ataxia, and cerebral white matter lesions

Takuya Kosaka1,2, Yumekichi Maeda1, Genrei Ohta1,2,3, Shigemi Morioka4,5, Masao Kawatani1,2,3, Toshiyuki Yamamoto6, Yusei Ohshima1 (1.Department of Pediatrics, University of Fukui, Fukui, Japan, 2.Department of Pediatrics, Prefectural Center for Children with Developmental Disabilities, Fukui, Japan, 3.Department of Pediatrics, Fukui Prefectural Hospital, Fukui, Japan, 4.Department of Pediatrics, Fukui Aiiku Hospital, Fukui, Japan, 5.Department of Pediatrics, Japanese Red Cross Kyoto Daini Hospital, Kyoto, Japan, 6.Department of Genetic Medicine, Division of Advanced Biochemical Sciences, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan)

[O10-04]演題取り下げ

(1.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 2.Keio University Health Center, Kanagawa, Japan, 3.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 4.Department of Pediatric Neurology, Okayama University Hospital, Okayama, Japan)

[O10-05]The risk of scoliosis in patients with AADC deficiency after gene therapy.

Karin Kojima1, Marina Mizobe1, Yoshie Kurokawa1, Mizuki Kobayashi1, Akihiko Miyauchi1, Hitoshi Osaka1, Takanori Yamagata1,2 (1.Department of Pediatrics, Jichi Medical University, 2.Department of Pediatrics, Tochigi rehabilitation center)

[O10-06]A case of SEPN1-related myopathy diagnosed in adulthood

Ayaka Takeuchi, Kohei Yamakawa, Kohei Matsubara, Risako Ishioka, Masataka Fukuoka, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Shin Okazaki (Department of Pediatric Neurology and Logopedics, Osaka City General Hospital, Osaka, Japan)