Research Interests

Research Interests

The nucleus is “operations central” for eukaryotic cells. It houses genomic DNA and coordinates major cellular activities through the production of messenger RNA from DNA. The nucleus is surrounded by a nuclear envelope that provides security for the genomic DNA and regulates the flow of macromolecules to and from the cytoplasm. The Wallrath laboratory is researching mutations in genes encoding nuclear proteins that cause human disease. Curiously, these genes are expressed in all tissues of the body; however, the mutations cause tissue-specific defects. Mutations in the SNRNP200 gene can cause Retinitis Pigmentosa, a vision disorder that worsens with age. The SNRNP200 gene encodes an RNA helicase that is an essential component of the spliceosome, a large protein complex that removes introns and joins exons to make mature mRNAs. Mutations in the LMNA gene cause rare types of muscular dystrophy. The LMNA gene encodes lamins, filament-forming proteins that assemble into a meshwork on the inside of the nuclear envelope. The mechanisms by which mutations in these two genes cause disease and the identification of new targets for treatment are the focus of research.