Meeting Program

  November 9th

  • The door will open at 9：45

  • 10:00-10:05
  • Opening Remarks: Fumio Hanaoka (Director-General, NIG)

  • 10:05-10:25
  • Ituro Inoue (National Institute of Genetics)
  • Overview of J-RDMM (Japanese rare diseases models and mechanisms network)

  • 10:25-10:55
  • Hidehiro Mizusawa (National Center of Neurology and Psychiatry)
  • Initiative on rare and undiagnosed diseases (IRUD) in Japan

  • 11:00-11:30
  • Naomichi Matsumoto (Yokohama City University)
  • Rare disease genome analysis: Where we've come and where we're going

  • 11:30-12:00
  • Philip Hieter (University of British Columbia)
  • The Canadian rare diseases models and mechanisms (RDMM) network: Connecting novel disease gene discoveries to functional characterization research in model organisms

  • Lunch 12:00-13:15

  • 13:15-13:35
  • Koichi Kawakami (National Institute of Genetics)
  • Analysis of rare diseases using adult zebrafish: social behavior and skeletal dysplasia

  • 13:35-14:00
  • Tohru Ishitani (Osaka University)
  • Rapid validation of rare disorder genotype-phenotype correlations using small fish models

  • 14:05-14:35
  • Lilianna Solnica-Krezel (Washington University School of Medicine)
  • Forward and reverse genetic approaches to understanding human disease in zebrafish

  • 14:35-15:05
  • Cheol-Hee Kim (Kyungpook National University)
  • Disease modelling of rare neurological diseases in zebrafish

  • 15:05-15:25 Break and poster viewing

  • 15:25-15:55
  • Lim Weng Khong (SingHealth Duke-NUS Institute of Precision Medicine)
  • Overview of rare disease research and use model organisms/systems in Singapore

  • 15:55-16:25
  • A.K. Munirajan (University of Madras)
  • India’s mission program on pediatric rare genetic disorders

  • 16:25-16:55
  • Shih-Feng Tsai (National Health Research Institutes)
  • Taiwan rare disease network

  • 17:00-17:30
  • Ni-Chung Lee (National Taiwan University Hospital)
  • Aromatic L-amino acid decarboxylase deficiency – what we learned from the mouse model

  • 17:30-18:00
  • Chong Kun Cheon (Pusan National University)
  • Mechanism and early detection of neurological impairment of Hunter syndrome

  • 18:15-21:15
  • Scientific Information Exchange Meeting


  November 10th

  • 9:45-10:05
  • Kuniaki Saito (National Institute of Genetics)
  • Knockout Drosophila collections for studying gene function and human diseases

  • 10:05-10:30
  • Atsushi Sugie (Niigata University)
  • Utilizing fly to understand genetic aspects of neurodegenerative conditions

  • 10:30-11:05 Break and poster viewing

  • 11:05-11:35
  • Shinya Yamamoto (Baylor College of Medicine)
  • Leveraging resources and technology in Drosophila for rare disease diagnosis and research

  • 11:35-12:00
  • Toshiyuki Takano (Kyoto Institute of Technology)
  • Context-dependent effects of NSF missense variants identified in three patients with neurological disorders

  • Lunch 12:00-13:15

  • 13:15-13:45
  • Yonghua Sun (Chinese Academy of Sciences)
  • High-efficient genome knock-in by induced primordial germ cell transplantation in zebrafish

  • 13:45-14:15
  • Jeroen Bakkers (Hubrecht Institute)
  • Genetic zebrafish models to study cardiac diseases

  • 14:20-14:50
  • Yun-Jin Jiang (National Health Research Institutes)
  • The potential roles of Rcbtb1 in familial exudative vitreoretinopathy and inherited retinal dystrophy

  • 14:50-15:20
  • Kazuhide Asakawa (National Institute of Genetics)
  • ATP dyshomeostasis as a potential trigger of neurodegeneration

  • 15:30-16:00 Panel discussion

  • 16:00-16:05
  • Closing Remarks: Koichi Kawakami (NIG)

  • 18:00-21:00
  • Scientific Information Exchange Meeting