【Secretariat】
Department of
Pediatrics Saitama Medical
University

38Morohongo,Moroyama-machi,
Iruma-gun, Saitama 350-0451,
Japan
Phone:+81-(0)49-276-1218

【Congress Secretariat】
Convention Lab. Co.,Ltd.
4F,Yoshikawa Bldg.
6-4-12 Hashimoto, Midori-ku,
Sagamihara-shi, Kanagawa
252-0143, Japan
Phone:+81-(0)42-707-7275
Fax:+81-(0)42-707-7276
Email:jsimd59@conventionlab.net

Schedule & Program

Schedule

Program

Special Lecture

Special Lecture 1October 12 (Thur) 15:00~16:00

Chairperson:Akira Ohtake
(Department of Pediatrics, Saitama Medical University)

Citrin deficiency - Fateful encounter -

Takeyori Saheki (Kagoshima University Graduate School of Medicine and Dental Sciences)

Special Lecture 2October 13 (Fri)  17:10~18:10

Chairperson:Toshiyuki Fukao
(Department of Pediatrics, Graduate School of Medicine Gifu University)

The Cutting Edge of Autophagy Study:The Path from Basic to Application

Tamotsu Yoshimori (Osaka University Graduate School of Medicine)

President LectureOctober 13 (Fri)  13:10~13:40

Chairperson:Hiroyuki Ida
(Department of Pediatrics, The Jikei University School of Medicine)

Shifts in the diagnostic paradigm of genetic diseases: From ‘one gene-one enzyme’ to ‘too many genes-diverse phenomena’.

Akira Ohtake

(Department of Pediatrics, Saitama Medical University)

JSIMD Award LectureOctober 12 (Thu)  14:20~14:50

Chairperson:Fumio Endo
(Kumamoto-Ezuko Medical Center for The Severely Disabled)

Study on molecular genetics, diagnosis and treatment of trace element disorders

Hiroko Kodama

(Department of Health and Dietetics, Faculty of Health and Medical Sciences, Teikyo Heisei University)

Recommending Lecture

SLEIMPN Recommending LectureOctober 12 (Thur) 11:40~12:30

Chairperson:Mitsuru Kubota
(Department of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development)

NGS in the diagnosis of mitochondrial diseases: novel disorders and unexpected phenotypes.

Jose Abdenur

(CHOC Children’s, Division of Metabolic Disorders. Orange CA, USA
FESEN Buenos Aires, Argentina)

SIMD Recommending Lecture(Sponsored Seminor 3)October 13 (Fri)  11:00~11:50

Chairperson:Masaki Takayanagi
(Department of Nursing, Faculty Health Care and Medical Sports, Teikyo Heisei University)

From bedside, to bench and back again

Kimberly Chapman

(Children’s National Rare Disease Institute)

Sponsor:JCR Pharmaceuticals Co., Ltd.

KSIMD Recommending LectureOctober 14 (Sat)  11:00~11:50

Chairperson:Tetsuya Ito
(Fujita Health University, School of Medicine)

Mitochondrial Diseases in Korea

Young-Mock Lee

(Department of Pediatrics,Yonsei University College of Medicine)

Educational Lecture

Educational Lecture 1October 12 (Thur) 11:40~12:10

Chairperson:Kei Murayama
(Department of Metabolism, Chiba Children's Hospital)

Integrative analysis of transcriptome and cellular bioenergetics profiles

Vicente Yepez

(Technical University Munich)

Educational Lecture 2October 12 (Thur) 16:10~17:10

Chairperson:Torayuki Okuyama
(National Center for Child Health and Development)

Molecular diagnostics of Inherited Metabolic Diseases via RNA sequencing

Holger Prokisch

(Technical University Munich, Helmholtz Zentrum München)

Educational Lecture 3October 13 (Fri)  10:00~11:00

Chairperson:Shigeo Kure
(Department of Pediatrics, Tohoku University School of Medicine)

Genomic diagnosis of mitochondrial disorders: how good are we & how can we increase
diagnostic yield?

David Thorburn
(Murdoch Childrens Research Institute)

Educational Lecture 4October 14 (Sat) 13:10~14:10

Chairperson:Toshihiro Ohura
(Sendai City Hospital)

Mitochondrial Disease Therapies: Translation from simple model animals to bedside

Marni Falk

(Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine,
Philadelphia, PA, USA)

Symposium

Symposium 1October 12 (Thur) 17:20~18:50

<Mitochondrial disorder - basic researches for understanding the disorder>

 Organizer:Masakazu Kohda (Juntendo University & Saitama Medical University)

  • Mitochondrial Dynamics in Aging and Disease
    Takeshi Tokuyama (Tokyo University of Pharmacy and Life Sciences)
  • Reverse genetic studies on mitochondrial DNAs with pathogenic mutations in mice
    Kazuto Nakada (University of Tsukuba)
  • Challenging to mitochondrial gene therapy by MITO-Porter, a nano device for mitochondrial drug delivery
    Yuma Yamada (Faculty of Pharmaceutical Sciences, Hokkaido University)

Symposium 2October 13 (Fri)  13:50~15:20

<Gene therapy for inborn error of metabolism>

 Organizer:Toya Ohashi (The Jikei University School of Medicine)

 Chairperson:Toya Ohashi
(he Jikei University School of Medicine)
        Torayuki Okuyama
(National Center for Child Health and Development)
  • Current status of Gene Therapy for Genetic Disease in Japan.
    Toya Ohashi (The Jikei University School of Medicine)
  • Gene Editing for MPS 1 and 2 using Zinc Finger Nuclease Technology
    Edward Conner (Sangamo Therapeutics)
  • Lentiviral based ex vivo gene therapy for Fabry disease
    Nerissa Kreher (Avrobio Inc.)

Symposium 3October 13 (Fri)  15:30~17:10

<Clinical practice in Mitochondrial disorders; The quintessence of diversity>

 Organizer:Kei Murayama (Chiba Children's Hospital)

 Chairperson:Kei Murayama
(Chiba Children's Hospital)
        Hitoshi Osaka
(Department of Pediatrics, Jichi Medical University)
  • Clinical practice in Mitochondrial disorders; The quintessence of diversity
    Kei Murayama (Chiba Children's Hospital)
  • Mitochondrial hepatopathy
    Shunsaku Kaji (Tsuyama Chuo Hospital)
  • Mitochondrial cardiomyopathy
    Atsuhito Takeda (Hokkaido University)
  • The diversity of Leigh syndrome
    Masakazu Mimaki (Teikyo University)
  • Mitochondrial disorders in neonatal period
    Taro Nagatomo (Ehime Prefectural Central Hospital)

Sponsor:SBI Pharmaceuticals Co., Ltd.

Symposium 4October 14 (Sat)   9:20~10:50

<Novel therapeutic approach for inherited and metabolic diseases>

 Organizer:Torayuki Okuyama (National Center for Child Health and Development)

 Chairperson:Torayuki Okuyama
(National Center for Child Health and Development)
        Fumio Endo
(Kumamoto-Ezuko Medical Center for The Severely Disabled)
  • Chaperone therapy from basic to clinical research
  • Eiji Namba (Tottori University & Tottori University Hospital)

  • Liver derived cells, stem cells & microparticles to treat inborn errors of metabolism
    Etienne Sokal
    (Cliniques Universitaires ST Luc , Unviversité Catholique de Louvain and Promethera Biosciences)
  • Phase 3 Long-term Study Evaluating Efficacy and Safety of Pegvaliase Treatment in Adults with PKU
    Nicola Longo (University of Utah, Salt Lake City, UT, USA)

Sponsored Seminar

Sponsored Seminar 1 October 12 (Thur) 11:40~12:30
Chairperson:Akira Ohtake

(Department of Pediatrics, Saitama Medical University)
※chairperson was changed.

Development of Novel Therapy for Central Nervous System Involvement of lysosomal Storage Diseases

Torayuki Okuyama

(Department of Clinical Laboratory Medicine, Center for Lyosomal Storage Diseases, National Center for Child Health and Development)

Sponsor:Green Cross Corporation

Sponsored Seminar 2 October 13 (Fri) 11:00~11:50

<Hyperammonemia that can't be overlooked>

Chairperson:Toshihiro Ohura
(Division of Pediatrics, Sendai City Hospital)

Treatment experience by long-term management of Carglumic Acid (Carbaglu®) to patients with propionic acidemia in Japan

Atsuko Noguchi

(Department of Pediatrics, Akita University Graduate School of Medicine)

Adult cases of NAGS deficiency with successful management using N-carbamoyl-L-glutamic acid

Kimihiko Oishi

(Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai)

Sponsor:POLA PHARMA INC.

Sponsored Seminar 3 (SIMD Recommending Lecture) October 13 (Fri) 11:00~11:50
Chairperson:Masaki Takayanagi
(Department of Nursing, Faculty Health Care and Medical Sports, Teikyo Heisei University)

From bedside, to bench and back again

Kimberly Chapman

(Children’s National Rare Disease Institute)

Sponsor:JCR Pharmaceuticals Co., Ltd.

Sponsored Seminar 4 October 14 (Sat) 11:00~11:50
Chairperson:Hiroyuki Ida
(Department of Pediatrics, The Jikei University School of Medicine)

Various problems in neurologic type of Gaucher disease.

Kei Murayama

(Department of Metabolism, Chiba Children’s Hospital)

Lipid Metabolism Disorders might be associated with Parkinson’s Disease

Taku Hatano

(Department of Neurology, Juntendo University School of Medicine)

Sponsor:Sanofi K.K.

Luncheon Seminar

Luncheon Seminar 1 October 12 (Thur) 12:40~13:40
Chairperson:Yoshikatsu Eto
(Advanced Clinical Research Center & Institute for the Treatment of Genetic Diseases, Institute of Neurological Disorders)

Treatment Strategy for Gaucher Disease –The Results of VPRIV Extension Study and Therapeutic Goals

Hiroyuki Ida

(Department of Pediatrics, The Jikei University School of Medicine)

Sponsor:Shire Japan KK

Luncheon Seminar 2 October 12 (Thur) 12:40~13:40
Chairperson:Torayuki Okuyama
(Department of Clinical Laboratory Medicine, Center for Lyosomal Storage Diseases, National Center for Child Health and Development)

Pathophysiology of Lysosomal Acid Lipase Deficiency (LAL-D)

John Jay Gargus

(Center for Autism Research and Translation / University of California, Irvine)

Sponsor:Alexion Pharma GK

Luncheon Seminar 3 October 13 (Fri) 12:00~13:00
Chairperson:Yoshikatsu Eto
(Advanced Clinical Research Center, Institute of Neurological Disorders/The Jikei University School of Medicine)

Fabry Disease : Lessons learned from our experience for decades

R. J. Desnick

(Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai)

Sponsor:Sanofi K.K.

Luncheon Seminar 4 October 13 (Fri) 12:00~13:00

<Real world of medical service for the patients with Fabry disease>

Chairperson:Norio Sakai
(Division of Health Science,Osaka University Graduate School of Medicine)

Cardiac manifestation of Fabry disease and the long-term effect of enzyme replacement therapy

Kenichi Hongo

(Division of Cardiology, Department of Internal Medicine, The Jikei University School of Medicine)

Genetic Counseling for the patients with Fabry disease-Significance of pedigree analysis

Yoriko Watanabe

(Research Institute of Medial Mass Spectrometry/ Department of Pediatrics and Child Health, Kurume University School of Medicine)

Sponsor:Sumitomo Dainippon Pharma Co., Ltd.

Luncheon Seminar 5 October 14 (Sat) 12:00~13:00
Chairperson:Motomichi Kosuga
(National Center for Child Health and Development)

Early diagnosis & management of MPS IVA

Julian Raiman

(Birmingham Children’s Hospital NHS Foundation Trust, Birmingham
Department of Inherited Metabolic Disorders service, Pediatrics)

Sponsor:BioMarin Pharmaceutical Japan K.K.

Luncheon Seminar 6 October 14 (Sat) 12:00~13:00
Chairperson:Fumio Endo
(Kumamoto-Ezuko Medical Center for The Severely Disabled)

Latest Therapy for PKU ‐Aiming the Life-Long Treatment-

Haruo Shintaku

(Department of Pediatrics Osaka City University Graduate School of Medicine)

Sponsor:DAIICHI SANKYO COMPANY, LIMITED

【Secretariat】
Department of
Pediatrics Saitama Medical
University

38Morohongo,Moroyama-machi,
Iruma-gun, Saitama 350-0451,
Japan
Phone:+81-(0)49-276-1218

【Congress Secretariat】
Convention Lab. Co.,Ltd.
4F,Yoshikawa Bldg.
6-4-12 Hashimoto, Midori-ku,
Sagamihara-shi, Kanagawa
252-0143, Japan
Phone:+81-(0)42-707-7275
Fax:+81-(0)42-707-7276
Email:jsimd59@conventionlab.net