Session Details
[O09]Oral Session 9 Rare Diseases: New Technologies
Thu. Dec 18, 2025 4:55 PM - 5:45 PM JST
Thu. Dec 18, 2025 7:55 AM - 8:45 AM UTC
Thu. Dec 18, 2025 7:55 AM - 8:45 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs:Sumito Dateki(Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences)/Naoya Morisada(Department of Clinical Genetics, Hyogo Prefectural Kobe Children’s Hospital)
[English Session]
[O9-1]Molecular Modeling Analysis of Double Heterozygous Primary Chylomicronemia Using AlphaFold3
Kentaro Suda1, Kaho Kato1, Yuko Takasu1, Ayana Miura2, Tasuku Mariya1,3, Aki Ishikawa1, Akihiro Sakurai1,4 (1.Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, 2.Department of Clinical Genetics, Sapporo Medical University Hospital, 3.Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine, 4.Center for Genomic Medicine, Caress Memorial Hospital)
[O9-2]Genotype-Phenotype Correlation of Non-Primary Features in Japanese Pachydermoperiostosis
Ryo Tanaka1, Risa Fukuda1, Hironori Niizeki2, Tomoya Takegami3, Tomoko Hirano3, Takashi Nomura3, Atsuhito Seki4, Mikiko Miyasaka5, Satoshi Narumi6, Kazuhiko Nakabayashi7, Hiroyuki Murota8, Kazue Yoshida1 (1.Division of Dermatology, National Center for Child Health and Development, Tokyo, Japan, 2.Meidaimae Skin Clinic, Tokyo, Japan, 3.Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan, 4.Division of Orthopaedic Surgery, National Center for Child Health and Development, Tokyo, Japan, 5.Division of Radiology, National Center for Child Health and Development, Tokyo, Japan, 6.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 7.Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan, 8.Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)
[O9-3]Investigation and function analysis of alternative splicing causing neurodevelopmental disorder in TENM4 and other genes
Shin Hayashi1,2, Yasuyo Suzuki1, Yasushi Enokido3, Kenichiro Yamada1, Jun-Ichi Takanashi4, Hiroaki Miyahara5, Johji Inazawa2 (1.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan, 2.Institute of Science Tokyo, 3.Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, 4.Yachiyo Medical Center, Tokyo Womenʼs Medical University, 5.The Institute for Medical Science of Aging, Aichi Medical University)
[O9-4]Limitations and Potentials of ChatGPT in Clinical Genetic Diagnostics of Pediatric Rare Disorder
Hisato Suzuki1,2, Emiko Noguchi1 (1.Department of Medical Genetics, University of Tsukuba, Ibaraki, Japan, 2.Department of Child Health, University of Tsukuba, Ibaraki, Japan)
[O9-5]Bridging Clinical Genetics and Research: A Collaborative Approach to VUS Interpretation
Shin Hayashi1,2, Kenichiro Yamada1, Yasuyo Suzuki1, Yuya Sakimoto1, Takuma Mori1, Hiyori Ueda2, Shiomi Otsuji2, Natsuki Nakamura2, Tomoko Uehara2, Hiroaki Miyahara3, Seiji Mizuno2, Mie Inaba2 (1.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan, 2.Department of Pediatric Internal Medicine and Clinical genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan, 3.The Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan)
