Professor Naomichi Matsumoto is a leading authority in human genetics and serves as Professor and Chair of the Department of Human Genetics at Yokohama City University Graduate School of Medicine. With an H-index of 97 (Google Scholar), he has made seminal contributions to the discovery of disease-causing genes in human genetic disorders. He served as Editor-in-Chief of the Journal of Human Genetics from 2014 to 2020 and currently acts as an advisory editor. Professor Matsumoto has played a pivotal role in identifying the molecular bases of approximately 100 developmental genetic disorders, including Sotos syndrome, Marfan syndrome type II, Ohtahara syndrome, Coffin–Siris syndrome, SENDA, and neuronal intranuclear inclusion disease. In recognition of his achievements, he has received numerous prestigious awards, including the Japan Society of Human Genetics Awards (2011), the Minister of Education Prize for Science and Technology (2019), and the Rare People Award (Brazil) (2025), highlighting his international leadership in human genetics.