Pediatrics

In the Department of Pediatrics, we conduct research on intractable diseases observed during childhood.
The Metabolism and Screening Group, as a core institution in Japan, is engaged in research on newborn screening for inherited metabolic disorders. We perform screening techniques and genetic diagnosis using next-generation sequencing for conditions such as lysosomal storage diseases, amino acid metabolism disorders, carbohydrate metabolism disorders, immunodeficiencies, and neurological diseases.
We are also developing new screening systems and selecting candidate diseases to expand the range of conditions included in newborn screening.
A major achievement of the new screening system is the first successful identification of a patient with spinal muscular atrophy (SMA), a severe neurological disorder, through newborn screening in Japan, enabling treatment before the onset of symptoms.
The Basic Research Group is working on elucidating novel disease mechanisms and developing new therapies for metabolic disorders using patient-derived disease-specific iPS cells.
The Nephrology Group is conducting clinical and basic research on the function of podocytes in the glomerular basement membrane.
The Neuromuscular Group is analyzing genes related to hereditary neurological diseases and performing gene therapy for cases detected through the above-mentioned screening efforts.
The Cardiology Group is involved in the analysis of congenital heart disease pathophysiology and research on mitochondrial cardiomyopathy.
In the field of Endocrinology, genetic analyses of neonatal hyperinsulinemia, pathophysiological studies of congenital hypothyroidism, and biomarker exploration for pediatric lifestyle-related diseases are being conducted, along with several clinical trials and studies.