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In our department, we study the biological bases of neurodevelopmental disorders in children, ranging from common diseases, such as mental retardation, cerebral palsy and autism spectrum disorders, to relatively rare but severe genetic disorders, such as mitochondria diseases, Rett syndrome and hypomyelinating disorders in the central nerve systems including Pelizaeus-Merzbacer disease and PCWH (Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease). We are trying to delineate molecular and pathologic bases, genetic causes, and potential therapeutic application of theses diseases by multifaceted approaches using patient samples as well as animal models.

  1. Mitochondrial disorders (Goto)
  2. Mental retardation (Goto)
  3. Rett syndrome (Itoh)
  4. hypoxic-ischemic brain disorders of children (Itoh)
  5. Pelizaeus-Merzbacher disease (Inoue)
  6. Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (PCWH) (Inoue)