Session Details
[S13]Navigating Pediatric Genetic Medicine: From Genomic Insights to Clinical Practice
Sat. Nov 21, 2026 9:40 AM - 11:40 AM JST
Sat. Nov 21, 2026 12:40 AM - 2:40 AM UTC
Sat. Nov 21, 2026 12:40 AM - 2:40 AM UTC
Room 2 (Exhibition Hall 3-A, Exhibition Building, Sendai International Center)
Chair: Atsuo Kikuchi (Tohoku University), Keiichi Hirono (Toyama University Hospital)
［English Session］
[S13-1]Genetic Etiology of Persistent Truncus Arteriosus: Prevalent TMEM260 Variants in the Japanese Population
Hisao Yaoita1, Eiichiro Kawai3, Jun Takayama4,5,6,7, Naoya Saijo2, Chiharu Ota2, Daijiro Sato1, Masayuki Abiko8, Kouta Suzuki8, Masato Kimura3, Akira Ozawa3, Gen Tamiya4,5,6,7, Shigeo Kure2,7,9, Atsuo Kikuchi2,7 (1. Department of Pediatrics, Tohoku University Hospital, 2. Department of Pediatrics, Tohoku University Graduate School of Medicine, 3. Department of Pediatric Cardiology, Miyagi Children's Hospital, 4. Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, 5. Tohoku Medical Megabank organization, Tohoku University, 6. Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, 7. Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, 8. Department of Pediatrics, Yamagata University Graduate School of Medicine, 9. Miyagi Childrens Hospital)
[S13-2]The Importance of Early Detection and Treatment Initiation in Familial Hypercholesterolemia
Keiji Matsunaga1,2 (1. Biobank, Open Innovation Center, National Cerebral and Cardiovascular Center, 2. Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University)
[S13-3]A Novel Inborn Error of Immunity Caused by Heterodimeric Interference of BCL11B
Kazuki Okuyama (The National Cancer Center Research Institute)
[S13-4]Therapeutic prospects for Fukuyama congenital muscular dystrophy: from splicing pathology to clinical implementation
Mariko Ikeda (Department of Pediatrics, Kochi Medical School, Kochi University)