Session Details
[O18]Oral Session 18 Clinical Genetics 2
Fri. Dec 19, 2025 2:05 PM - 2:55 PM JST
Fri. Dec 19, 2025 5:05 AM - 5:55 AM UTC
Fri. Dec 19, 2025 5:05 AM - 5:55 AM UTC
Room 6 (313+314, 3F, PACIFICO Yokohama)
Chairs：Keiko Matsubara（National Center for Child Health and Development, Division of Diversity Research）／Kazuki Yamazawa（Department of Medical Genetics, NHO Tokyo Medical Center）
［English Session］
[O18-1]A Case Clinically Diagnosed as Neonatal Hemochromatosis Harboring Novel RFX6 Variants with Extrahepatic Hemosiderosis
Yuka Okazaki1, Aiko Sasaki1, Kosuke Taniguchi2, Taishin Kido1, Fumika Shimizu1, Akira Naomi1, Yuka Wada1, Seiji Wada1, Kenichiro Hata2 (1.Center for Maternal-Fetal-Neonatal and Reproductive Medicine, National Center for Child Health and Development, Setagaya-ku, Tokyo, Japan, 2.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Setagaya-ku, Tokyo, Japan)
[O18-2]Prediction of Epilepsy Using Machine Learning on Integrated Polygenic Risk Scores and Perinatal Data
Takafumi Kubota1,2, Hisashi Ohseto3, Yuki Kashiwada4,5, Taku Obara3, Kazutoshi Konomatsu2, Masashi Aoki1, Kazutaka Jin2 (1.Department of Neurology, Tohoku University Graduate School of Medicine, 2.Department of Epileptology, Tohoku University Graduate School of Medicine, 3.Division of Molecular Epidemiology, Tohoku University Graduate School of Medicine, 4.Division of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 5.Center for Advanced Intelligence Project, RIKEN)
[O18-3]Comparison of single-site and multi-site sampling for chromosomal analysis of villi by next-generation sequencing
Hiromu Okaki1, Tsuyoshi Takiuchi1,2, Nana Yamakoshi3, Yoshitaka Kimura3, Shota Suzuki4, Yuki Yasui1, Yumi Nakao1, Sohmi Kin1, Eriko Hamamoto1, Mari Tabuse1, Saori Tsuji1, Koyo Yamamoto1, Hidemine Honda5, Mika Handa1, Aiko Okada1, Erika Nakatsuka1, Tatsuya Miyake1, Mahiru Kawano1, Kazuya Mimura1, Michiko Kodama1 (1.Department of Obstetrics and Gynecology, The University of Osaka, Osaka, Japan, 2.Department of Clinical Genomics, Graduate School of Medicine, The University of Osaka, Osaka, Japan, 3.Takara Bio Inc., Shiga, Japan, 4.OVUS Co., Ltd., Aichi, Japan, 5.Honda Ladies Clinic, Fukui, Japan)
[O18-4]The genetic heterogeneity in AD contributes to concomitant clinical disorientation among the Japanese general population
Makiko Taira1,2,5, Nobuo Fuse1,3, Shu Tadaka1, Naoki Nakaya1,2, Taku Obara1, Soichi Ogishima1,3, Shunji Mugikura1,2,3, Atsushi Hozawa1,2, Kengo Kinoshita1,3,4, Masayuki Yamamoto1,3 (1.Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan, 2.Graduate School of Medicine, Tohoku University, Sendai, Japan, 3.Advanced Research Center for Innovations in Next-Generation Medicine, Tohoku University, Sendai, Japan, 4.Graduate School of Information Sciences, Tohoku University, Sendai, Japan, 5.Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan)
[O18-5]Case report: Gene disruption associated with cryptic chromosomal rearrangement in a case of balanced translocation
Takuya Naruto1, Hiroaki Murakami2, Koki Nagai3, Tomoko Nishikawa3, Ruriko Tachioka3, Yukiko Kuroda3 (1.Clinical Research Institute, Kanagawa Childrenʼs Medical Center, Kanagawa, Japan, 2.Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan, 3.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Kanagawa, Japan)