Inborn Errors of Metabolism

Screening methods using omics analysis
Development of point-of-care testing through the application of licensed medical devices
Therapeutic approaches utilizing genome editing or antisense oligonucleotides

Japan Pediatric Society,
Japanese Society for Inborn Errors of Metabolism,
Japanese Society for Neonatal Screening,
The Japan Society of Human Genetics,
The Society for Study of Inborn Errors of Metabolism

Enzymes play an essential role in metabolism, which enables living organisms to manage energy and maintain their components. An imbalance in metabolism leads to inborn errors of metabolism (IEMs). With approximately 1,500 distinct types of IEMs, each being very rare, there remain many unmet medical needs. To address these challenges and contribute to individuals with IEMs and their families, my objective is to develop disruptive innovations through practical research grounded in knowledge from clinical experience.