The OPA1 gene is responsible for DOA plus syndrome, which is characterized by hearing loss—particularly Auditory Neuropathy Spectrum Disorder—and optic atrophy. Previous studies have mainly focused on optic atrophy, and there have been few reports describing the detailed clinical characteristics of hearing loss associated with this condition. In this study, we analyzed 18,475 Japanese patients with hearing loss and performed detailed clinical evaluations of 10 individuals car

The MYO7A gene is known to be responsible for three disorders: autosomal dominant nonsyndromic hearing loss (DFNA11), autosomal recessive nonsyndromic hearing loss (DFNB2), and Usher syndrome type 1B (USH1B). Most cases of DFNA11 associated with the MYO7A gene typically present with progressive high-frequency hearing loss. However, our study demonstrated that certain variants can cause low-frequency hearing loss, and these findings have been reported in a scientific paper. Ba

A paper summarizing the clinical characteristics of cases registered in the Branchio-oto-renal syndrome patient registry has been published in the journal Acta Otolaryngologica. https://www.tandfonline.com/doi/10.1080/00016489.2026.2635665?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed In this study, genetic testing was performed on 169 Japanese patients with Branchio-oto-renal syndrome. Variants in the EYA1 gene were identified in 66.7% of patien

Professor Shinichi Usami of our department has compiled the results of his many years of research into genetic analysis of hearing loss into a book titled "Molecular Diagnosis of Deafness" published by Springer Nature on January 8, 2026. This book is covering the basics of genetic medicine for hearing loss, such as the mechanisms of inheritance and the onset of hearing loss, and methods of genetic analysis using next-generation sequencers, this book also provides a clear over

The "World's Top 2% Scientists List," calculated by Stanford University researchers using Elsevier's Scopus database, has been updated in October 2025, and two researchers are selected from our department. The list is published in two parts: a "Career-long" list and a "Single Recent Year" list, and researchers. This list is based on scientists from around the world who have published at least five papers, and is compiled by combining various indicators to select the top 2% of