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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...
Lab Alumni
Niko Nikanen Zhaohua Wang Divya Palanisamy Amelia Li
Multi-Omics Approaches Applied to Neurodegenerative Diseases
One of the research interests in our lab is focused on the deep-molecular characterization of a clinically well-defined cohort of patients anchored in genomic data. Alzheimer’s (AD) and Parkinson’s disease (PD) are heterogeneous disorders with identifiable clinical-pathological subtypes based on...
Cellular Atlas of Parkinson's Disease
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...
Functional Characterization of the Autophagy-Lysosomal Dysfunction in AD and PD
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...
Molecular Pathogenesis of Adult Onset Neuronal Lipofuscinosis
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...