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Detailed molecular characterization of cell-specific transcriptomic states throughout multiple brain regions beyond nigrostriatal dopaminergic degeneration will provide mechanistic insights into both motor and non-motor PD symptoms. We will integrate neuropathology and snRNA-Seq data to identify a...

We have successfully identified multiple novel genetic associations between AD and common and rare variants in endolysosomal genes ( PLD3, RAB10, GRN12, TMEM106B, CPAMD8, MS4A4A). Recently, we performed a systematic, comprehensive evaluation of the contribution of coding variants in each...

In 2011, we discovered that mutations in the DNAJC5 gene cause a neurodegenerative disease, the autosomal dominant form of neuronal ceroid lipofuscinosis (AD-ANCL). DNAJC5 encodes cysteine-string protein alpha (CSPα). In subsequent studies, we demonstrated in vitro and in vivo that CSPα plays a...

The integration of multi-omics data sets can help to unravel the underlying mechanisms across multiple omic layers. We will leverage multi-omics data to profile the heterogeneity of pathways contributing to PD. Our unique study design combining clinical and neuropathological data with genomics...