Session Details

[O8]Oral Session 8 Metabolic and Mitochondrial Disorders

Fri. Oct 11, 2024 10:00 AM - 10:50 AM JST
Fri. Oct 11, 2024 1:00 AM - 1:50 AM UTC
Room 6(Castle, 1F)
Chairs:Yu-ichi Goto(Medical Genome Center, National Center of Neurology and Psychiatry), Masayoshi Nagao(NHO Hokkaido Medical Center)

[O8-1]A new genome editing therapy for MLII/III using the CRISPR/Cas3 and utilization of the RADDAR-J

Yasuyuki Fukuhara1,2, Ryunosuke Sanada2, Tetsumin So1, Motomichi Kosuga1, Akihiro Umezawa2, Kenji Kurosawa1 (1.Center for Genetic Medicine, National Center for Child Health and Development, 2.Center for Regenerative Medicine, National Center for Child Health and Development)

[O8-2]New developments in neonatal mass screening for homocystinuria

Masayoshi Nagao, Toju Tanaka (Department of Pediatrics & Genetic Metabolism, NHO Hokkaido Medical Center, Sapporo, Japan)

[O8-3]Clinical utility of quantitative sudomotor function testing in Fabry disease

Katsuya Nakamura1,2, Teruya Morizumi1, Tsuneaki Yoshinaga1, Yoshiki Sekijima1 (1.Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 2.Center for Medical Genetics, Shinshu University Hospital)

[O8-4]Identification of intronic variants in NDUFA3 as a cause of Leigh syndrome by multi-omics analysis

Kohta Nakamura1, Yoshihito Kishita1,2, Ayumu Sugiura1, Atsuko Okazaki1, Kokoro Ozaki1,3, Yukiko Yatsuka1, Naoyuki Matsumoto1, Akira Ohtake4,7, Kei Murayama1,5, Yuichi Shiraishi6, Yasushi Okazaki1,3, Hiroshi Matsumoto7 (1.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2.Department of Life Science, Faculty of Science and Engineering, Kindai University, 3.Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 4.Department of Clinical Genomics, Saitama Medical University, 5.Department of Metabolism, Chiba Children Hospital, 6.Division of Genome Analysis Platform Development, National Cancer Center Research Institute, 7.Department of Pediatrics , Saitama Medical University)

[O8-5]Interaction effect between resistin gene rs1862513 variant and low birth weight on T2DM development: Toon Genome Study

Yasunori Takata1, Ayaka Yoshida2, Yasuharu Tabara3, Haruhiko Osawa1 (1.Department of Diabetes and Molecular Genetics, Ehime University Graduate School of Medicine, Ehime, Japan, 2.Department of Obstetrics and Gynecology, Ehime University Graduate School of Medicine, Ehime, Japan, 3.Graduate School of Public Health, Shizuoka Graduate University of Public Health, Shizuoka, Japan)