Session Details

[BO]Oral Presentation Award Session

Fri. Dec 19, 2025 11:45 AM - 12:35 PM JST
Fri. Dec 19, 2025 2:45 AM - 3:35 AM UTC
Room 1 (501+502, 5F, PACIFICO Yokohama)
Chairs:Atsushi Ozawa(Gunma University Graduate School of Health Sciences / Division of Genetics, Gunma University Hospital)/Ohsuke Migita(Department of Laboratory Medicine, St. Marianna University, School of Medicine)
[English Session]

[BO-1]Functional analysis of a pathogenic CLDN5 missense mutation associated with alternating hemiplegia

Yosuke Hashimoto1,2, Gergo Porkolab2, Natalie Hudson2, Xiuyuan Zhan1, Karine Poirier3, Nathalie Boddaert3, Yasuo Uchida1, Arnold Munnich3, Matthew Campbell2 (1.Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan, 2.Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland, 3.Institut Imagine, Universite Paris Cite, Paris, France)

[BO-2]Uncovering a deep Intronic FBN1 variant by genome and transcriptome sequencing in a Marfan syndrome patient

Moeka Yamagishi1, Yosuke Nishio2,3,4, Hidenori Yamamoto5, Koyo Tsujikawa2, Kotaro Tsukada2, Yasuyoshi Oka2, Hironobu Morinaga2, Kana Kato2, Mayuko Shimada2, Yuka Nakazawa2,6, Yukako Muramatsu4, Shinji Saitoh7, Tomoo Ogi2,8,9,10 (1.Nagoya University School of Medicine, Nagoya, Japan, 2.Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan, 3.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 4.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 5.Department of Pediatric Cardiology, Childrenʼs Heart Center, Nagoya University Hospital, Nagoya, Japan, 6.Department of Molecular Genetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan, 7.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 8.Department of Human Genetics, Graduate School of Medicine, Nagoya University, Nagoya, Japan, 9.Center for One Medicine Innovative Translational Research (COMIT), Gifu University Institute for Advanced Study, Gifu, Japan, 10.Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research (iGCORE), Tokai National Higher Education and Research System, Nagoya, Japan)

[BO-3]A cross-population compendium of gene-environment interactions uncovers the dynamics of genetic architecture

Shinichi Namba1,2,3, Kyuto Sonehara1,2,3, Yuriko N Koyanagi4, Takezou Kikuchi5, Takafumi Ojima1,2,3,6, Ryuya Edahiro2,3,7, Go Sato1,2,3,8, Taiki Yamaji9, Yoshihiko Tomofuji1,2,3, Hiroyuki Ueda2,10, Kenichi Yamamoto2,11,12,13, Yosuke Ogawa1,14, Ken Suzuki2,15, Akinori Kanai16, Shinichi Higashiue17, Shuzo Kobayashi17, Hiroki Yamaguchi18, Yasunobu Nagata18, Yasushi Okazaki19, Naoyuki Matsumoto19, Kenta Motomura20, Hidenobu Koga20, Asahi Hishida21, Hiroaki Ikezaki22, Megumi Hara23, Mako Nagayoshi24, Isao Oze25, Shiori Nakano9, The BioBank Japan Project, Yoshiya Oda26, Yutaka Suzuki16, Motoki Iwasaki9,27, Norie Sawada27, Keitaro Matsuo4,28, Takayuki Morisaki29,30, Toshimasa Yamauchi15, Takashi Kadowaki31, Koichi Matsuda30,32, Yukinori Okada1,2,3,13,33 (1.Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo, 2.Department of Statistical Genetics, Osaka University Graduate School of Medicine, 3.Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, 4.Division of Cancer Epidemiology and Prevention, Aichi Cancer Center, 5.Faculty of Medicine, The University of Tokyo, 6.Graduate School of Medicine, Tohoku University, 7.Department of Respiratory Medicine and Clinical Immunology, Osaka University Graduate School of Medicine, 8.Department of Gastroenterological Surgery, Osaka University Graduate School of Medicine, 9.Division of Epidemiology, National Cancer Center Institute for Cancer Control, 10.Department of Metabolic Medicine, Osaka University Graduate School of Medicine, 11.Laboratory of Childrenʼs Health and Genetics, Division of Health Sciences, Osaka University Graduate School of Medicine, 12.Department of Pediatrics, Osaka University Graduate School of Medicine, 13.Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPI-IFReC), Osaka University, 14.Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 15.Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, 16.Life Science Data Research Center, Graduate School of Frontier Sciences, The University of Tokyo, 17.Tokushukai Group, 18.Department of Hematology, Nippon Medical School, 19.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 20.Iizuka Hospital, 21.Department of Public Health, Aichi Medical University School of Medicine, 22.Department of General Internal Medicine, Kyushu University Hospital, 23.Department of Preventive Medicine, Faculty of Medicine, Saga University, 24.Department of Preventive Medicine, Nagoya University Graduate School of Medicine, 25.Division of Cancer Information and Control, Aichi Cancer Center, 26.Department of Lipidomics, Graduate School of Medicine, The University of Tokyo, 27.Division of Cohort Research, National Cancer Center Institute for Cancer Control, 28.Division of Cancer Epidemiology, Nagoya University Graduate School of Medicine, 29.Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, 30.Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, 31.Toranomon Hospital, 32.Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, 33.Premium Research Institute for Human Metaverse Medicine (WPI-PRIMe), Osaka University)

[BO-4]Urinary Heteroplasmy Outperforms Blood for Non-Invasive mtDNA Variant Detection in Mitochondrial Disease Patients

Atsuko Okazaki1, Yukiko Yatsuka1, Akira Ohtake2,3, Kei Murayama1,4, Yasushi Okazaki1 (1.Juntendo University, Graduate School of Medicine, Diagnostics and Therapeutics of Intractable Diseases, 2.Department of Pediatrics, Saitama Medical University, 3.Department of Clinical Genomics, Saitama Medical University, 4.Department of Metabolism, Chiba Childrenʼs Hospital)