SCHEDULE & PROGRAM
Day 1:Oct. 5(Thu.)
Venue 1(12F Conference Hall)
9:00~9:30 President Lecure
- Chairperson
- Takanobu Otomo
(Department of Molecular and Genetic Medicine, Kawasaki Medical School)
Something new and something exciting!
- Norio Sakai
Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate
School
of
Medicine
9:50~10:50 Keynote Lecture 1
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate
School of
Medicine)
"The only constant is change"
A personal journey through the world of interdisciplinarity
- Rudi Balling
Institute of Molecular Psychiatry, University of Bonn, Bonn, Germany
11:00~11:50 Sponsored Seminar 1
Current situation of treatment for inborn error of
metabolism in Japan and the
US ~
Approach including liver transplantation ~
- Sponsored by
- Recordati Rare Disease Japan
- Chairperson
- Shirou Matsumoto
(Department of Pediatrics, Graduate School of Life Science, Kumamoto University)
Current Status and Future Prospects of Liver Transplantation for Pediatric Inherited
Metabolic Disorders in
Japan
- Koichi Mizuta
(Transplant Center, Saitama Children's Medical Center)
Liver Transplantation for Inborn Errors of Metabolism in the US
- Kimihiko Oishi
(Department of Pediatrics, The Jikei University School of Medicine)
12:00~12:50 Luncheon Seminar 1
- Sponsored by
- Sanofi K.K.
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University Graduate
School of
Medicine)
Pathophysiology and Treatment of Fabry's Disease―20 Years after Enzyme Replacement
Therapy
- Yoshikatsu Eto
(Director, Advanced Clinical Research Center, Institute of Neuro Science/Emeritus Professor, The Jikei
University School
of Medicine)
13:30~14:00 JSIMD Award Lecture
- Chairperson
- Yoshikatsu Eto
(Advanced Clinical Research Center, Southern Tohoku Institute
for Neuroscience/Tokyo Jikei University School of Medicine)
Basic and Clinical Study for Developing Novel Therapy for Mucopolysaccharidoses
- Torayuki Okuyama
(Saitama Medical University)
14:00~15:00 Young Researcher Award Candidates' Presentation
15:30~16:00 SIMD Recommending Lecture
- Chairperson
- Kenji Ihara
(Department of Pediatrics, Oita University Faculty of Medicine)
A novel N-glycan analysis method using Dried Blood Sample(DBS)paves the way for
remote testing and newborn
screening of
CDGs
- Earnest James Paul Daniel
(Children's Hospital of Philadelphia)
16:00~16:30 SLEIMPN Recommending Lecture
- Chairperson
- Tsutomu Takahashi
(Akita University Graduate School of Medicine, Department of Pediatrics)
A 29 year follow up of 22 confirmed cases with fructose-1,6-biphosphatase deficiency
in Costa Rica
- Manuel Saborio
(National Children Hospital/SLEIMPN)
16:30~18:00 Symposium 1
The 64th JSIMD Citrin Deficiency(CD) Symposium 2023
- Chairperson
- Kimitoshi Nakamura
(Department of Pediatrics, Faculty of Life Sciences, Kumamoto University)
Johannes Haberle
(University Children's Hospital Zurich, Division of Metabolism)
Breakthroughs in adopting a new and holistic approach to tackle citrin deficiency
- Barbara Yu (Citrin Foundation Ltd.)
Pre-clinical requirements towards an improved management of citrin deficiency
- Johannes Haberle (University Children's Hospital Zurich, Division of Metabolism)
Role of CD center for nation wide survey, newborn screening, gene analysis along with
guidelines
- Kimitoshi Nakamura (Department of Pediatrics, Kumamoto University)
Dysregulated gene expression in livers of CTLN2 patients
- Ituro Inoue (National Institute of Genetics)
Day 1:Oct. 5(Thu.)
Venue 2(12F 1202)
11:00~11:50 Sponsored Seminar 2
- Sponsored by
- Clinigen K.K.
- Chairperson
- Jun Mori
(Division of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General
Hospital)
Intracerebroventricular Enzyme Replacement Therapy for Mucopolysaccharidosis Type
II
following
Hematopoietic
Stem Cell
Transplantation
- Tetsumin So
(Division of Medical Genetics, National Center for Child Health and Development
Allogeneic stem cell transplantation for MPS II)
Motohiro Kato
(Department of Pediatrics, The University of Tokyo)
12:00~12:50 Luncheon Seminar 2
- Sponsored by
- JCR Pharmaceuticals Co., Ltd./Sumitomo Pharma Co., Ltd.
- Chairperson
- Kimihiko Oishi
(Department of Pediatrics, The Jikei University School of Medicine)
Initiating Early Treatment in MPS II: Insights from Phenotypic Variability and
Newborn Screening
- Barbara K. Burton
(Northwestern University Feinberg School of Medicine, Chicago)
14:00~15:00 Special Session 1
Disaster counter measures for medical care of inborn
error metabolic diseases
- Chairperson
- Ayako Matsunaga
(Department of Pediatrics, St. Marianna University School of Medicine)
Takashi Hamazaki
(Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine)
Preparing Healthcare Systems for Disasters
- akayuki Iwaibara
(Department of Neonatal Medicine, Osaka Women's and Children's Hospital)
Joint Efforts of DMAT and Pediatric Perinatal Liaison during Disasters
- Miho Misaki
(National Hospital Organization Headquarter DMAT Office)
Disaster Preparedness for Children with Medical Complexity
- Kiyoshi Takemoto
(Osaka Developmental Rehabilitation Center)
Logistics Preparedness for Special Formula during Disasters
- Tetsuya Ito
(Department of Pediatrics, Fujita Health University)
15:00~16:30 Sponsored Symposium
Sponsored Symposium： Therapeutic Strategies for Lysosomal Storage Disorders:
Current
Status and Future Perspectives
- Sponsored by
- Takeda Pharmaceutical Company Limited
- Chairpersons
- Hiroyuki Ida
(The Jikei University)
Kimitoshi Nakamura
(Department of Pediatrics, Faculty of Life Sciences, Kumamoto University)
Management of Gaucher disease in bone
- Satoshi Abe
(Yoshikawa Central General Hospital)
Practice of Shared Decision Making in Fabry disease
- Kei Murayama
(Diagnostics and Therapeutics of Intractable Disease, Intractable Disease Center, Juntendo University
Graduate
School of
Medicine)
Clinical problems of evaluation of lyso-Gb3 and bone lesion in Fabry disease
- Hideki Fujii
(Division of Nephrology, Kobe University Graduate School of Medicine)
Day 2:Oct. 6(Fri.)
Venue 1(12F Conference Hall)
8:00~8:50 Morning Seminar 1
- Sponsored by
- BioMarin Pharmaceutical Japan K.K.
- Chairperson
- Kei Murayama
(Department of Diagnostics and Therapeutics of Intractable Diseases, Juntendo University)
Treatment of phenylketonuria: Management options in adulthood
- Yoko Nakajima
(Department of Pediatrics, Fujita Health University School of Medicine)
9:00~10:00 Educational Lecture 1
Toward the improvement of patients QOL
- Chairperson
- Yuta Koto
(Faculty of Nursing, Kansai Medical University)
Torayuki Okuyama
(Genomic Medicine, Saitama Medical University)
Implications of PRO/QOL measurement
- Shinichi Noto
(Center for Health Economics and QOL Research, Niigata University of Health and Welfare)
The creation of a manual for home enzyme replacement therapy for lysosomal diseases
- Hiroyuki Yamakawa
(The Department of Cardiology, School of Medicine, Keio University)
10:00~10:30 KSIMD Recommending Lecture
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University
Graduate
School of
Medicine)
Clinical and molecular findings of patients with hyperphenylalaninemia in KOREA
- Jeongho Lee
(Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea)
10:30~11:00 SSIEM Recommending Lecture
- Chairperson
- Atsuo Kikuchi
(Department of Pediatrics, Tohoku University School of Medicine)
Expanded Newborn Screening-what we are learning
- Giancarlo La Marca
(University of Florence and IRCCS Meyer Children's University Hospital)
11:00~11:50 Sponsored Seminar 3
- Sponsored by
- OrphanPacific, Inc.
- Chairperson
- Tetsuya Ito
(Department of Pediatrics, Fujita Health University)
Current Topics in Newborn Screening for Urea Cycle Disorders
- Hironori Kobayashi
(Laboratories Division, Shimane University Hospital)
12:00~12:50 Luncheon Seminar 3
Importance of Early Diagnosis and Early Treatment of
Fabry Disease
- Sponsored by
- Sumitomo Pharma
- Chairperson
- Atsuo Kikuchi(Department of Pediatrics, Tohoku University School of Medicine)
Newborn screening for Fabry disease and clinical collaboration
- Hiromi Nyuzuki
(Department of Pediatrics, Niigata University Medical and Dental Hospital)
Multidisciplinary Collaboration in Clinical Practice for Fabry Disease and
Experience
with Agalsidase
Beta
BS
at the
Jikei University Hospital
- Ken Sakurai
(Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan)
13:00~13:30 Special Lecrure 1
- Chairperson
- Takanobu Otomo
(Department of Molecular and Genetic Medicine, Kawasaki Medical School)
Quiescence regulation of adult neural stem cells by lysosomes
- Taeko Kobayashi
(Graduate School of Biostudies, Kyoto University)
13:30~14:00 Special Lecrure 2
- Chairperson
- Hiroshi Kobayashi
(Division of Gene Therapy, Research Center for Medical Science, The Jikei University School of
Medicine)
Exosomes as a new therapeutic modality and disease modifiers
- Shunbun Kita
(Department of Metabolic Medicine, Graduate School of Medicine, Osaka University
Department of Adipose Management, Graduate School of Medicine, Osaka University)
14:00~15:00 JSIMD Chairmen Relay Lectures
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University
Graduate
School of
Medicine)
Takashi Hamazaki
(Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine)
Messages of Members and Japanese Society of Inherited Metabolic Diseases
- Yoshikatsu Eto
(Advanced Clinical Research Center, Southern Tohoku Institute for Neuroscience
Tokyo Jikei University School of Medicine)
Inborn errors of metabolism in the genome era
- Fumio Endo
(Kumamoto Ezuko Medical Center for Severely Disabled)
What I thought and did when I was the chairman of JSIMD
- Hiroyuki Ida
(The Jikei University)
Message for Young Physicians and Investigator in JSIMD
- Torayuki Okuyama
(Genomic Medicine, Saitama Medical University)
The future of the Japanese Society for Inherited Metabolic Diseases
- Kimitoshi Nakamura
(Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences)
15:00~16:00 Special Session 3
Issues of SDGs and Ethics for the inborn error metabolic
diseases
- Chairperson
- Toshiyuki Seto
(Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine)
Norio Sakai
(Division of Health Sciences, Osaka University Graduate School of Medicine)
- Commentator
- Chieko Tamura
(Certified Genetic Counselor(USA/JAPAN); Fetal Medicine Clinic
Tokyo)
Issues of SDGs and Ethics for the inborn error metabolic diseases
- Norio Sakai
(Division of Health Sciences, Osaka University Graduate School of Medicine)
Experience of prenatal diagnosis in Osaka Metropolitan University
- Toshiyuki Seto
(Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine)
Prenatal diagnosis Case 1; Hunter syndrome
- Haruka Bamba
(Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine)
Prenatal diagnosis Case 2; Krabbe disease
- Yuki Sato
(Department of Genetic Counseling, Osaka University Hospital)
16:00~17:00 Educational Lecture 2
JSIMD seminar program: Initial response
- Chairperson
- Kei Murayama
(Diagnostics and Therapeutics of Intractable Disease, Intractable Disease Center, Juntendo
University
Graduate
School of
Medicine)
Kimitoshi Nakamura
(Department of Pediatrics, Faculty of Life Sciences, Kumamoto University)
A Further Step Beyond Second-Line Examinations ―Genetic Testing―
- Hideo Sasai
(Department of Early Diagnosis and Preventive Medicine for Rare and Intractable Pediatric Diseases,
Graduate
School of
Medicine, Gifu University
Department of Pediatrics, Graduate School of Medicine, Gifu University
Clinical Genetics Center, Gifu University Hospital)
Initial management of inherited metabolic disease
- Ryosuke Bo
(Department of Pediatrics, Kobe University Hospital)
Best practice for hyperammonemia
- Tomoko Lee
(Department of Pediatrics, Hyogo Medical University)
17:00~17:30 Educational Lecture 3-1:An encouragement to study abroad
- Chairperson
- Yoichi Wada
(National Institutes of Health)
An encouragement to study abroad
- Masaru Shimura
(Department of Metabolism, Chiba Children's Hospital)
Day 2:Oct. 6(Fri.)
Venue 2(12F 1202)
8:00~8:50 Morning Seminar 2
Expanded Newborn Screening for Lysosomal Storage Disorders
- Sponsored by
- Japan Medical Office, Takeda Pharmaceutical Company Limited
- Chairperson
- Masahisa Kobayashi
(Department of Pediatrics, The Jikei University School of Medicine)
Outcomes and Challenges of Expanded Newborn Screening
- Takaaki Sawada
(Department of Pediatrics, Faculty of Life Sciences, Kumamoto University)
The role of the certified genetic counselor in expanded newborn screening for
lysosomal storage
diseases
- Yuki Sato
(Department of Genetic Counseling, Osaka University Hospital)
10:00~11:00 Special Session 2:Diagnostic approach for complex group of inborn
error
metabolic diseases
- Chairperson
- Yoriko Watanabe
(Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine)
Tomonobu Hasegawa
(Department of Pediatrics, Keio University School of Medicine)
Diagnostic tests for the Inherited GPI deficiency(IGD)
- Yoshiko Murakami
(Research Institute for Microbial Diseases, Osaka University)
Molecular diagnosis of Congenital Disorders of Glycosylation
- Nobuhiko Okamoto
(Department of Medical Genetics, Osaka Women's and Children's Hospital)
Genetic testing in mitochondrial diseases
- Kei Murayama
(Diagnosis and Therapeutics of Intractable Disease, Intractable Disease Research Center)
11:00~11:50 Sponsored Seminar 4
Case study of ASMD
- Sponsored by
- Sanofi K.K. Rare Diseases Medical, Specialty Care
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University
Graduate
School of
Medicine)
The diagnosis and treatment in a patient with Niemann-Pick type B(ASMD)
- Kenji Inoue
(Shiga Medical Center for Children)
An adult case of ASMD type B diagnosed with thrombocytopenia and hepatosplenomegaly
- Takayuki Ikezoe
(Department of Hematology, Fukushima Medical University)
12:00~12:50 Luncheon Seminar 4
- Sponsored by
- BioMarin Pharmaceutical Japan K.K.
- Chairperson
- Kimihiko Oishi
(Department of Pediatrics, The Jikei University School of Medcine)
PALYNZIQR(pegvaliase): Real-world clinical experience
- Cary O Harding
(Department of Molecular and Medical Genetics, Oregon Health & Science University School of
Medicine)
Day 3:Oct. 7(Sat.)
Venue 1(12F Conference Hall)
8:00~8:50 Morning Seminar 3
- Sponsored by
- KM Biologics Co., Ltd.
- Chairperson
- Kenji Ihara
(Department of Pediatrics, Faculty of Medicine, Oita University)
Future vision of the newly expanded newborn screening
- Kimitoshi Nakamura
(Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences)
9:00~10:00 Special Lecrure 3
Challenge to gene therapy for inborn error metabolic
diseases
- Chairperson
- Toya Ohashi
(Department of Human Health Science and Therapeutics, The Jikei University School of Nursing)
Development of gene therapy using AAV vector for Niemann-Pick disease type C
- Takanori Yamagata
(Tochigi Rehabilitation Center
Jichi Medical University)
Development of in vivo gene therapy for GM2 gangliosidoses
- Kohji Itoh (Department of Pediatrics, Jichi Medical University, School of Medicine)
10:00~10:30 Educational Lecture 3-2
Reading and writing research papers in English:
Useful tips
- Chairperson
- Yusuke Hamada
(Hirakata General Hospital for Developmental Disorders)
Reading and writing research papers in English: Useful tips
Sachiko Yasuda
The Graduate School of Intercultural Studies, Kobe University
10:30~11:00 Keynote Lecture 2
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University
Graduate
School of
Medicine)
Second Earth Exists in Incredible Number ~Expectations for the Discovery of Life in
Space~
- Junichi Watanabe
(National Astronomical Observatory of Japan)
11:00~11:50 Sponsored Seminar 5
MPS VII ~Early Diagnosis from Fetal Hydrops & Latest
Treatment~
- Sponsored by
- Ultragenyx Japan K.K.
- Chairperson
- Takashi Hamazaki
(Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine)
Case Series of Enzyme Replacement Therapy for Patients with Mucopolysaccharidosis type
Ⅶ
- Shungo Okamoto
(Department of Pediatrics, Graduate School of Medicine, Osaka Metropolitan University)
A case report of early diagnosis and treatment in MPSVII with hydrops fetalis and
ascites
- Motomichi Kosuga
(Division of Medical Genetics, National Center for Child Health and Development)
12:00~12:50 Luncheon Seminar 5
- Sponsored by
-
Amicus Therapeutics, K.K.
- Chairperson
- Motomichi Kosuga
(Division of Medical Genetics, National Center for Child Health and Development)
Management of Fabry disease―How to think about the age to start treatment
- Masahisa Kobayashi
(Department of Pediatrics, The Jikei University School of Medicine)
13:00~14:30 Symposium 2
Message from patients side; The significance of the JSIMD for
the patients, for the
members
- Chairperson
- Norio Sakai
(Child Healthcare and Genetic Science Laboratory, Division of Health Sciences, Osaka University
Graduate
School of
Medicine)
Yukiko Nishimura
(NPO ASrid)
- Panelist
- Kei Murayama
( Diagnostics and Therapeutics of Intractable Disease, Intractable
Disease Center, Juntendo University Graduate School of Medicine)
Hirotake Sawada
(Department of Nursing, Faculty of Medicine, University of Miyazaki)
Nobuyuki Ishige
(Division of Newborn Screening, Tokyo Health Service Association)
Be Positive, Be disease
- Yuki Naito
(Specified Nonprofit Suma Universal Beach Project)
The attempt for setting-up of gymnastics for the carer at home
- Rie Honma
(Non-Profit Organization Association For the future of ALD Patients)
The hope for JSIMD; from the view of intermediate agency
- Yukiko Nishimura
(NPO ASrid)
Day 3:Oct. 7(Sat.)
Venue 2(12F 1202)
8:00~8:50 Morning Seminar 4
- Sponsored by
- Sanofi K.K.
- Chairperson
- Keiko Ishigaki
(Department of Pediatrics, Tokyo Women's Medical University)
ERT in Pompe disease
- Hiroshi Kobayashi
(Division of Gene Therapy, Research Center for Medical Science, The Jikei University School of
Medicine)
11:00~11:50 Sponsored Seminar 6
Once again, bile acids are interesting! ―Science of
bile acids and therapeutic
updates
on inborn errors of bile acid metabolism―
- Sponsored by
- ReqMed Company, Ltd.
- Chairperson
- Kimitoshi Nakamura
(Department of Pediatrics, Faculty of Life Sciences, Kumamoto University)
Fundamentals of Bile Acids and Inborn Error of Bile Acid Metabolism
- Hiroshi Nittono
(Junshin Clinic Bile Acid Institute, Chief Director)
Treatment of inborn error of bile acid metabolism: the update 2023
- Mitsuyoshi Suzuki
(Department of Pediatrics, Juntendo University Faculty of Medicine)
12:00~12:50 Luncheon Seminar 6
- Sponsored by
- Daiichi Sankyo Co., Ltd.
- Chairperson
- Toshihiro Ohura
(Division of Clinical Laboratory, Sendai City Hospital)
New Guide of treatment of PKU―Considered current PKU treatment options―
- Haruo Shintaku
(Donated Course “Disability medicine and Regenerative medicine” Osaka Metropolitan University
Graduate
School
of Medicine)