[E1] English Session 1
Metabolic disease/Gene therapy

Thu. May 31, 2018 3:10 PM - 4:10 PM Room 8 (1F 103)

Chair:Yo Niida(Center for Clinical Genomics, Kanazawa Medical University Hospital), Nobuyuki Shimozawa(Division of Genomics Research Life Science Research Center, Gifu University)

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[E-001] Drug screening for mitochondrial disease using fibroblasts from patients with mitochondrial disease

Akihiko Miyauchi¹, Takeshi Kouga¹, Eriko Jimbo¹, Tetsuro Matsuhashi², Takaaki Abe², Takanori Yamagata¹, Hitoshi Osaka¹ (Department of Pediatrics, Jichi Medical University, Tochigi, Japan¹, Department of Clinical Biology and Hormonal Regulation, Tohoku University Graduate School of Medicine, Sendai, Japan²)

[E-002] Plasma biomarkers for the dignosis of Niemann Pick C

Yoshikatsu Eto¹, Chen Wu^{1, 3}, Hiroko Yanagisawa¹, Keiko Akiyama¹, Takashi Miyajima^{1, 3}, Junko Igarashi³, Hossain Mohammad¹, Takeo Iwamoto² (Advanced Clinical Research Center, Southern Tohoku Brain Research Institute, Kanagawa, Japan¹, Core Central Laboratory, Tokyo Jikei University School of Medicine, Tokyo, Japan², AnGes Rare Disease Research Center, Tokyo, Japan³)

[E-003] Acceleration of coagulation process during the enzyme infusion in a patient with Morquio A syndrome

Tatsuro Izumi (Department of Pediatrics and Child Neurology, Nanao National Hospital, Ishikawa, Japan)

[E-004] A skeletal muscle model of infantile—onset Pompe disease using patient—specific iPS cells

Takeshi Yoshida^{1, 2}, Tomonari Awaya³, Tatsuya Jonouchi², Ryo Kimura³, Shigemi Kimura⁴, Kanako Maizuru¹, Masatoshi Nakata^{1, 3}, Atsushi Yokoyama¹, Takumi Era⁵, Hidetoshi Sakurai², Toshio Heike^{1, 6} (Department of pediatrics, Kyoto University Hospital, Kyoto, Japan¹, Center for iPS Cell Research and Application（CiRA）, Kyoto University, Kyoto, Japan², Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan³, Kumamoto City Child Development Support Center, Kumamoto, Japan⁴, Department of Cell Modulation, Institute of Molecular Embryology and Genetics（IMEG）, Kumamoto University, Kumamoto, Japan⁵, Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan⁶)

[E-005] Assessment of exon skipping for Duchenne muscular dystrophy by systematic review and meta—analysis

Yuko Motohashi¹, Terumi Murakami², En Kimura³, Hirofumi Komaki¹, Norio Watanabe⁴ (Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan¹, Department of Neurology, Higashisaitama National Hospital, Saitama, Japan², Exra Early Exploratory Clinical Trial Unit, Translational Medical Center, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan³, Department of Health Promotion and Human Behavior, Graduate School of Medicine／School of Public Health, Kyoto University, Kyoto, Japan⁴)

[E-006] CNS therapy for Fukuyama muscular dystrophy

Mariko Taniguchi—ikeda¹, Ichiro Morioka¹, Kazumoto Iijima¹, Tatsushi Toda² (Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan¹, Department of Neurlology, The University of Tokyo, Tokyo, Japan²)