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Contact information for our team: Kerry Palihnich (Clinical Research Program Manager): kpalhini@bidmc.harvard.edu Michelle Ward (Sr. Clinical Research Coordinator): mward7@bidmc.harvard.edu Lily Fanburg (Clinical Research Coordinator): lfanburg@bidmc.harvard.edu

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Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease | Acta Neuropathologica Communications | Full Text (biomedcentral.com)

Research Overview Bone Biology Bone destruction commonly occurs in multiple rheumatic diseases such as rheumatoid arthritis, psoriatic arthritis and lupus. In our laboratory, we study the molecular mechanisms that control osteoclast differentiation and activation, the cells that are primarily...

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...