Shunji Tomatsu MD, PhD

Dr. Shunji Tomatsu is Head of the Skeletal Dysplasia Laboratory at Nemours Children’s Health and serves as Professor of Pediatrics at Thomas Jefferson University, Professor at the University of Delaware, and Adjunct Professor at Shimane University and Gifu University. With more than four decades of experience in inherited metabolic and genetic diseases, his research has focused extensively on mucopolysaccharidoses (MPS), a group of lysosomal storage disorders.

Dr. Tomatsu has authored and co-authored over 280 peer-reviewed publications and holds numerous patents related to diagnostics and therapeutics for rare genetic diseases. His work has significantly advanced the understanding of gene mutations, phenotype-genotype correlations, protein structure biology, biomarkers, newborn screening, patient registries, and natural history studies in MPS and related disorders.

His laboratory has contributed to the development of multiple therapeutic strategies, including hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, and gene therapies utilizing AAV, CRISPR-Cas9, and lentiviral vectors. He also established advanced glycosaminoglycan assay systems using ELISA and LC-MS/MS technologies. As principal investigator and co-investigator on multiple NIH-funded projects, Dr. Tomatsu continues to lead innovative research to improve diagnosis, treatment, and functional assessment of rare skeletal and metabolic disorders, including Morquio A syndrome, Krabbe disease, and Pompe disease.