Shinya Yamamoto - "Using Drosophila to discover and study new human disease-causing genes"

Many projects in the Yamamoto lab are related to rare and undiagnosed diseases. As a member of the Undiagnosed Diseases Network (UDN) Model Organisms Screening Center (MOSC) and BCM Center for Precision Medicine Models (CPMM), his lab utilizes Drosophila to test whether a genetic variant(s) identified in a patient is the cause of their disease, which is pursued in close collaboration with clinicians and human geneticists across the country and abroad. Dr. Yamamoto pioneered the humanization of fly genes by combining state-of-the-art genetic tools to functionally characterize disease-associated variants and uncover pathogenic mechanisms with potential therapeutic implications. Dr. Yamamoto and his team are also involved in development of novel computational tools such as MARRVEL and ModelMatcher with bioinformaticians and programmers to facilitate rare disease diagnosis and research.