Advanced Biomedical Sciences


Advanced Biomedical Sciences
Great Departments
Developmental and Reconstructive Medical Sciences


Professor NAKAMURA Kimitoshi
Assistant Professor MATSUO Osamu
Assistant Professor OGATA Mika

Research theme

Our pediatric department focuses on intractable and rare disorders during pediatric period. Our metabolic unit (conducted by Prof. Kimitoshi Nakamura) is a center of new born screening for lysosomal disorders, amino acid disorders, immune deficiency and neurological diseases in Japan. Especially, we identified a patient with SMA and treated with gene therapy during early neonatal period, which was a first case in Japan. We also established the gene diagnosis system for screen-positive patients by next generation gene sequencing method. Pathophysiological analysis and drug development study using by iPS cell technique are investigated by regenerative medicine specialists. The research group for Neonatology investigate pathophysiology of many disorders related with immature infant, focusing especially on the way to promote angiogenesis, neurogenesis and re-myelination in the injured area of neonatal hypoxic ischemic brain in order to compensate for the lack of neuronal tissue and its function. The research group for Nephrology focuses on basement membrane disorders of the kidney such as podocin abnormalities. Neuromuscular research group investigates for the pathology and therapy for Duchenne muscular dystrophy. In addition, the research group for Cardiology investigates mechanisms of congenital heart failure related with mitochondrial dysfunction. The researchers for endocrinology investigate gene analysis of congenital hyperinsulinism, pathophysiology of congenital hypothyroidism and biomarkers in pediatric obesity. As just written above, we have various investigations specialized for pediatric disorders.