Schedule 23-25 November 2023

Soumis par admincyim le mer 30/11/2022 - 16:01
Thursday 23 November

Session 1: Strategies for early diagnosis

Session 2: Is the case a case? The challenge of reliable confirmation of a suspected diagnosis

14:00
Welcome and introduction
Kimitoshi Nakamura (Kumamoto, Japan)
14:30
A symptom-based approach to early diagnosis of inherited metabolic diseases (IMDs)
Motomichi Kosuga (Tokyo, Japan)
15:00
Chinese perspective on early diagnosis (newborn screening, tests..)
Mei Lu (Xiamen, Fujan, China)
15:30
Newborn screening 1 (MS/MS): Challenges and limitations of current programmes
Stefan Kölker (Heidelberg, Germany)
16:00
Newborn screening 2 (WES/WGS): The future challenge of early diagnosis
Yin Hsiu Chien (Taipei, Taiwan)
17:00
Tandem mass spectrometry/organic acid analysis: Pattern finding and diagnostic pitfalls
Eric Law (Hong Kong (SAR))
17:30
Enzyme activity analysis: The golden standard still?
Torayuki Okuyama (Tokyo, Japan)
18:00
Next generation sequencing first? Challenging traditional diagnostic pathways
Osamu Ohara (Chiba, Japan)
18:30
Q&A OR participant’s case presentations
Friday 24 November

Session 3: A disease group-specific approach to early diagnosis and therapy. Amino acid related disorders

Session 4: A disease group-specific approach to early diagnosis and therapy. Organelle specific disorders

Session 5: Time is health: from emergency treatments to ATMPs

08:30
Disorders of amino acid metabolism
Takashi Hamazaki (Osaka, Japan)
09:00
Urea cycle disorders
Shirou Matusumoto (Kumamoto, Japan)
09:30
Disorders of organic acid metabolism
Kimihiko Oishi (Tokyo, Japan)
10:00
Disorders of bioaminergic metabolism
Paul Hwu (Taipei, Taiwan)
11:00
Lysosomal storage and peroxisomal diseases
Wing Fung (Hong Kong (SAR))
11:30
Congenital disorders of glycosylation
Yoshiko Murakami (Osaka, Japan)
12:00
Mitochondrial diseases
Akira Ohtake (Saitama, Japan)
13:30
Patient testimonial
Tetsuji Fujiyama (the Japanese society of patients and families with mucopolysaccharidoses)
14:25-15:25
WORKSHOP: Metabolic emergency (with participants’ and speakers’ case presentations)
Mitsuru Kubota (Tokyo); Stefan Kölker (Heidelberg)
15:55-16:55
WORKSHOP: Chronic presentations (with participants’ and speakers’ case presentations)
Kei Murayama (Chiba); Robin Lachmann (London)
17:00
Organ transplantation: Who, when, which organ?
Mureo Kasahara (Tokyo, Japan)
Saturday 25 November

Session 6: Time is health: from emergency to ATMPs (continued..)

09:00
Rationale and practical approach to dietary treatment (+special formula)
Mika Ishige (Tokyo, Japan)
09:30
Dietary treatment: a guarantee for normal development and growth?
Takashi Hamasaki (Osaka, Japan)
10:00
Hematopoietic stem cell therapy
Hiromasa Yabe (Kanagawa, Japan)
11:00
Enzyme therapy
Yoomi Kim (Sejong, Republic of Korea)
11:30
mRNA therapy
Robin Lachmann (London, UK)
12:00
Gene replacement therapy
Takanori Yamagata (Tochigi, Japan)
12:30
Cell transplantation and stem cell gene therapy
Shirou Matsumoto (Kumamoto, Japan)
13:00
Wrap up and conclusion