Full Name
Tomoo Ogi
Job Title
Professor of Genetics
Company/Institute
Nagoya Universiry
Speaker Bio
Tomoo Ogi is a professor at Nagoya University, specialising in DNA repair molecular mechanisms and human disorders linked to genome instability. His research focuses on transcription-coupled nucleotide excision repair (TCR/NER) and its role in maintaining genomic integrity. He has contributed to understanding TCR-deficiency disorders, including Cockayne syndrome (CS), which leads to severe developmental and neurological impairments. Through molecular and cellular biology approaches, his work aims to elucidate the mechanisms behind DNA repair defects and their pathological consequences. His findings have provided insights into potential therapeutic strategies for genome instability-related disorders.
Presentation Title
Advancing Rare Disease Diagnosis in Japan: The Role of Long-Read Genome and Transcriptome Analyses
Speaking At
