Project Type(s):
Basic Science

This project aims to identify genetic causes of heritable movement disorders and define pathogenic mechanisms to improve diagnosis and enable targeted therapies. Parkinson’s disease, ataxias, spastic paraplegias, and dystonic or choreiform disorders are highly genetically heterogeneous, and many causative genes remain unknown. We will (1) recruit and characterize individuals and families with genetically unexplained movement disorders; (2) apply linkage/IBD analysis, next-generation sequencing, and CNV analysis to discover novel disease genes; and (3) investigate pathogenic mechanisms using patient tissues, induced pluripotent stem cell–derived neural and glial models, and Drosophila. Functional studies will focus on RAB39B, ATP6AP2, SAMD9L, and GBA, genes involved in endolysosomal trafficking and autophagy, pathways central to neurodegeneration. Integrated genomic, cellular, and model-organism approaches will define disease mechanisms, identify vulnerable cell types, and reveal therapeutic targets applicable across neurodegenerative disorders.

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