Session Details
[S16]Symposium 16 Rare Disease Genomics: Multifaceted Approaches to Understanding Genetic Causes and Pathomechanisms
Sat. Dec 20, 2025 3:30 PM - 5:30 PM JST
Sat. Dec 20, 2025 6:30 AM - 8:30 AM UTC
Sat. Dec 20, 2025 6:30 AM - 8:30 AM UTC
Room 3 (303, 3F, PACIFICO Yokohama)
Chairs：Takeshi Mizuguchi（Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan）／Koh-ichiro Yoshiura（Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University）
［English Session］
[S16-1]The roles of G-quadruplexes in rare genetic neurological disorders
Norifumi Shioda (Department of Genomic Neurology, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan)
[S16-2]Identification of aberrant THE1B endogenous retrovirus fusion transcripts in sarcoidosis by digital genetics
Shunsuke Funaguma1, Aritoshi Iida1, Ichizo Nishino1,2 (1.Department of Genome Medicine Development, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), 2.Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan)
[S16-3]Next generation cytogenetics: Applications of Optical Genome Mapping in Rare Disease Research
Atsushi Fujita (Department of Human Genetic, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
[S16-4]Diseases identified through WGS analysis: Non-coding RNA-related diseases
Tadashi Kaname1,2,3 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Sendai, Japan, 3.Institute of Resource Development and Analysis, Kumamoto University, Kumamoto, Japan)