SCHEDULE & PROGRAM

Schedule Day1:Nov.24
Schedule Day2:Nov.25
2Schedule Day3:Nov.26

Simultaneous Translation Session as below,

November 24,2022

Venue 1

  • 10:30-11:00　Educational Lecture 1

    Speaker
    Takumi Era (Department of Cell Modulation, IMEG, Kumamoto University)

  • 11:00-11:50　Sponsored Seminar 1

    “PKU around the world – Treatment goal in PKU and the disease management on the day-to day lives.”

    Chairperson
    Fumio Endo (Kumamoto-Ezuko medical center for the severely disabled)
    Speaker
    Nicola Longo (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA)

  • 12:00-12:50　Luncheon Seminar 1

    “Update on Fabry disease basic research and clinical research”

    Chairperson
    Hiroshi Kobayashi (Division of Gene Therapy, Research Center of Medical Science, Department of Pediatrics, The Jikei University School of Medicine)

    “Significance of monitoring of Fabry patients following enzyme replacement therapy by analyzing anti-drug antibodies and disease-specific biomarkers”

    Speaker
    Hitoshi Sakuraba (Department of Clinical Genetics, Meiji Pharmaceutical University)

    “Fabry nephropathy and the usage experience of Agalsidase Beta BS”

    Speaker
    Ichiei Narita (Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences)

  • 15:30-16:00　SLEIMPN Recommending Lecture

    “Mitochondrial diseases: where clinics, genetics, basic investigation & translational science meet.”

    Speaker
    Alfredo Cerisola (Pediatric Neurology Department, University of the Republic, Uruguay)

  • 16:00-16:30　SSIEM Recommending Lectur

    Speaker
    Manuel Schiff (Service Maladies Métaboliques, CRMR Maladies Métaboliques)

  • 16:30-17:00　KSIMD Recommending Lecture

    “Molecular pathogenesis and novel therapeutic strategies of Fabry disease, a lysosomal storage disease”

    Speaker
    Jung Sung-Chul (Department of Biochemistry, College of Medicine, Ewha Womans University)

  • 17:00-18:00　Special Lecrure 1

    “Current standards for diagnosis and treatment of Urea cycle disorders and future prospects”

    Speaker
    Johannes Haeberle (Abteilung Stoffwechselkrankheiten / Leitender Arzt, Leiter Stoffwechsellabor)

November 25,2022

Venue 1

  • 8:00-8:50 Morning Seminar 1

    “New Expectations for the Treatment of Pompe Disease”

    Chairperson
    Hiroshi Kobayashi (Division of Gene Therapy, Research Center of Medical Science, Department of Pediatrics, The Jikei University School of Medicine)

    “Early diagnosis of Pompe disease by newborn screening and efficacy of enzyme replacement therapy ~Experiences from 2 cases of infantile-onset Pompe disease ~”

    Speaker
    Kanako Ishii (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University)

    “Efficacy of New Enzyme Replacement Therapy for Late-Onset Pompe Disease”

    Speaker
    Yusuke Hamada (Department of Pediatrics, Osaka University Graduate School of Medicine)

  • 9:00-9:30　President Lecure

    Chairperson
    Fumio Endo (Kumamoto-Ezuko medical center for the severely disabled)
    Speaker
    Kimitoshi Nakamura (Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University)

  • 9:30-10:00　Specilal Lecture 2

    Speaker
    Marek Michalak (University of Alberta)

  • 10:00-10:30　Educational Lecture 2

    Speaker
    Nicola Longo (Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA)

  • 10:30-11:00　Educational Lecture 3

    Speaker
    Dau-Ming Niu (Genetic Consultant Center Rare Disease Medical Research Center / Taipei Veterans General Hospital, Institute of Clinical medicine, National Yang-Ming University)

  • 11:00-11:50　Sponsored Seminar 3

    “Patient Reported Outcome Measurement in Gaucher disease and Fabry disease”

    Chairperson
    Aya Narita (Pediatric neurology. Tottori University Hospital)

    “Implications of using PROs for Rare Disease Areas”

    Speaker
    Norio Sakai (Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate School of Medicine)

    “Development and its significance of Patient Reported Outcome Measurement (PROM) in Japanese patients with lysosomal storage diseases”

    Speaker
    Shinichi Noto (Niigata University of Health and Welfare, The Center for Health Economics and Quality of Life Research)

  • 12:00-12:50　Luncheon Seminar 3

    “The importance of early enzyme replacement therapy in pediatric patients with classic Fabry disease”

    Chairperson
    Kimitoshi Nakamura (Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University)
    Speaker
    Marco Spada (Head of the Division of Pediatrics. Department of Pediatrics, University of Torino, Regina Margherita Children’s Hospital, Torino, Italy)

  • 13:00-14:00　Specilal Lecture 3

    "Organic acidurias: The impact of early diagnosis and therapy on long-term outcome"

    Speaker
    Stefan Keoller (University Children's Hospital Heidelberg)

  • 14:00-14:30　Educational Lecture 4

    Speaker
    Shirou Matsumoto (Department of Pediatrics, Graduate School of life Science. Kumamoto University)

  • 14:30-15:00　Educational Lecture 5

    Speaker
    Yin-Hsiu Chien (Department of Medical Genetics and Pediatrics National Taiwan University Hospital)

  • 15:00-16:30　Symposium 1

    Chairperson
    Kimitoshi Nakamura (Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University)
    Chairperson/Speaker
    Kimihiko Oishi (Department of Pediatrics The Jikei University School of Medcine)
    Speaker
    Nobuyuki Shimozawa (Division Genomics Research, Life Science Reserch Center, Gifu University)
    Speaker
    Tomokazu Kimizu (Osaka Women's Hospital, Department of Pediatric Neurology)
    Speaker
    Hideki Muramatsu(Department of Pediatrics, Nagoya University Graduate School of Medicine)

  • 16:30-17:00　SIMD Recommending Lecture

    “Pharmacology study of AAV vectors for genome editing in GSD 1A infantile mice”

    Speaker
    Benjamin Donald Arnson (Graduate Student, Duke University School of Medicine in Durham)

  • 17:00-17:50　Evening Seminar

    “Treatable Mucopolysaccharidosis type VII ～the latest findings”

    Chairperson
    Takashi Hamazaki (Department of Pediatrics ,Graduate School of Medicine, Osaka Metropolitan University)

    “Clinical features of MPS VII and the drug development”

    Speaker
    Takashi Hamazaki (Department of Pediatrics ,Graduate School of Medicine, Osaka Metropolitan University)

    “A case of Mucopolysaccharidosis type VII with severe hydrops fetalis and ascites”

    Speaker
    Motomichi Kosuga (Division of Medical Genetics, National Center for child Health and Development)

    “Significant unmet need in infants with mucopolysaccharidosis VII and non-immune hydrops fetalis: a summary of cases”

    Speaker
    Deborah Marsden (Ultragenyx Pharmaceutical Inc.)

November 26,2022

Venue 1

  • 8:00-8:50　Morning Seminar 3

    “Current Situation and Perspectives of Expanded Newborn Screening”

    Chairperson
    Akira Hata (Chiba Foundation for Health Promotion and Disease Prevention)

    “～Our experience of the establishment of and expanded newborn screening program in Osaka and the associated challenges～”

    Speaker
    Tomokazu Kimizu (Department of Pediatric Neurology, Osaka Women’s and Children’s Hospital)

    “～Study on criteria to add new target diseases to nationwide newborn screening in Japan～”

    Speaker
    Go Tajima (Division of Neonatal Screening, Research Institute, National Center for Child Health and Development)

  • 10:00-10:30　Educational Lecture 6

    Speaker
    Masayoshi Nagao (NHO Hokkaido Medical Center)

  • 10:30-11:00　Educational Lecture 7

    Speaker
    Takuma Yamamoto (Department of Legal Medicine, Hyogo Medical University)

  • 11:00-11:50　Sponsored Seminar 5

    “Newborn screening and genetic counseling for lysosomal storage diseases – One Specialty Center’s Practice in the United State”

    Chairperson
    Norio Sakai (Child Healthcare and Genetic Science Laboratory, Division of Health Science, Osaka University Graduate School of Medicine)
    Speaker
    Dawn Laney (Genetic Counselor, Emory University, Department of Human Genetics)

  • 12:00-12:50　Luncheon Seminar 5

    “How should we follow positive cases of lysosomal storage diseases newborn screening?”

    Chairperson
    Motomichi Kosuga (National Center for Child Health and Development)
    Speaker
    Tetsuya Ito (Department of Pediatrics, Fujita Health University, School of Medicine)

  • 13:00-14:30　Symposium2

    Chairperson
    Kimitoshi Nakamura (Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University)
    Chairperson
    Toshihiro Ohura (Division of Clinical Laboratory, Sendai City Hospital)
    Speaker
    Chikahiko Numakura (Associate Professor. Saitama Medical University, Department of Clinical Genomics & Pediatrics)
    Speaker
    Jun Kido (Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University)
    Speaker
    Atsuo Kikuchi ( Department of Pediatrics, Tohoku University Hospital)
    Speaker
    Toju Tanaka (Department of Pediatrics & Center for Inherited Metabolic Disease, National Hospital Organization Hokkaido Medical Center. medical director)