Juan Botas, Ph.D.
Professor, Departments of Molecular and Human Genetics, Molecular and Cellular Biology; Program in Cell and Molecular Biology, Baylor College of Medicine
Research focus: Molecular genetics of Huntington's disease, Spinocerebellar ataxias, Alzheimer's disease, Myotonic dystrophy, Rett syndrome
The Botas lab takes a systems approach to find clues to the pathogenesis of various neurodevelopmental and neurodegenerative diseases. To identify networks implicated in disease pathogenesis and suitable targets for therapeutic intervention, the lab integrates genome-scale disease modifier data with proteome, transcriptome and metabolome data.
Since genome-scale modifier screens are not practical in mammalian species, the Botas lab has generated a variety of Drosophila models for numerous neurological and neuromuscular disorders. These models recapitulate key features of the disease observed in patients. For example, Drosophila models for spinocerebellar ataxia type 1 (SCA1), Huntington's and Alzheimer's diseases show late disease onset, protein aggregation, accumulation of chaperones and ubiquitin-proteolytic pathway components in these aggregates, and progressive neuronal degeneration. Using neuropathological and behavioral readouts with these disease models, the Botas lab has discovered many proteins that function in pathways not previously suspected to be involved in neurodegeneration or development. Perhaps more importantly, they have also identified a number of possible drug targets that could mitigate the effects of the disease proteins.