Session Details

[O23]Oral Session 23 Therapeutics of Genetic Disorders / New Technologies

Sat. Dec 20, 2025 10:40 AM - 11:30 AM JST
Sat. Dec 20, 2025 1:40 AM - 2:30 AM UTC
Room 5 (311+312, 3F, PACIFICO Yokohama)
Chairs:Motomichi Kosuga(National Center for Child Health and Development)/Hideki Niimi(Department of Clinical Laboratory and Molecular Pathology, Faculty of Medicine, Academic Assembly, University of Toyama)

[O23-1]A case of successful pregnancy with burosumab in X-linked hypophosphatemia with favorable maternal and fetal outcomes

Yoshinori Moriyama1, Nozomi Nabetani1, Atsushi Suzuki2, Haruo Mizuno3, Hiroki Kurahashi4, Haruki Nishizawa1 (1.Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan, 2.Department of Endocrinology, Diabetes and Metabolism, Fujita Health University School of Medicine, Toyoake, Aichi, Japan, 3.Department of Pediatrics, Fujita Health University School of Medicine, 4.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Aichi, Japan)

[O23-2]Adenine base editing for treatment of Sturge-Weber syndrome

Kimihiko Banno, Kyoji Horie (Department of Physiology II, Nara Medical University, Kashihara, Japan)

[O23-3]Development of a Gene Panel and SSO Therapy Targeting Deep Intronic Variants in Citrin Deficiency

Eri Imagawa1, Jin Rong Ow2, Feng Chen3, Wei Yuan Cher2, Shermin Yu Tung Chan2, Rajasekhar Reddy Gurrampati2, Venkataramanan Ramadass2, Mun Fai Loke4, Tommaso Tabaglio2, Yoko Manome5, Hirotaka James Okano5, Masahide Yazaki6, Gaik Siew Ch’ng7, Manikandan Lakshmanan2, Su Seong Lee8, Jackie Y. Ying9, Ernesto Guccione110, Kimihiko Oishi1, Keng Boon Wee2 (1.Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan, 2.Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR), Singapore, 3.King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, 4.Camtech Biomedical Pte Ltd, Singapore, 5.Division of Regenerative Medicine, The Jikei University School of Medicine, Tokyo, Japan, 6.Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan, 7.Department of Genetics, Penang General Hospital, Penang, Malaysia, 8.Department of Bioengineering and Nanomedicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia, 9.Department of Bioengineering, King Fahd University of Petroleum & Minerals, Dhahran, Saudi Arabia, 10.Center for OncoGenomics and Innovative Therapeutics (COGIT), Center for Therapeutics Discovery, Department of Oncological Sciences and Pharmacological Sciences, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, USA)

[O23-4]Long-read sequencing revealed the complicated structure of the causative gene for congenital adrenal hyperplasia

Yoko Kuroki1,2,3, Noriko Ito4, Ikuko Kageyama5, Saori Miyasako5, Kazuhiko Nakabayashi4, Tatsuhiko Urakami6, Noriyuki Katsumata5, Maki Fukami3,5 (1.Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Division of Collaborative Research, National Research Institute for Child Health and Development, Tokyo, Japan, 3.Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan, 4.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan, 5.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 6.Department of Pediatrics, Nihon University Hospital, Tokyo, Japan)

[O23-5]Evaluation of Emedgene: an AI software that identifies pathogenic variants

Osamu Shimokawa1, Masayoshi Takeda1, Akemi Ota1, Hiroyasu Ohashi1, Yoichi Matsubara2, Hideaki Chiyo1, Megumi Machida2, Takako Nakamura2, Ritsuko Pooh1,2 (1.Clinical Laboratory, Ritz Medical Co., Ltd., 2.CRIFM Prenatal Medical Clinic)