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¿¬»ç: ¼º¿¬ÁÖ ±³¼ö´Ô (Washington University)

(¿Â¶óÀÎ) Zoom link: http://snu-ac-kr.zoom.us/s/92890734315

(¿ÀÇÁ¶óÀÎ) Àå¼Ò: ¼­¿ï´ëÇб³ 300µ¿ 611È£


Molecular Profiling to Enable Precision Medicine In Neurodegenerative Disease

Alzheimer's disease(AD) is the most common form of demetia and neurodegeneration without any effective treatment. Functional mechanisms and downstream effects of AD associated genes and variants have not yet been fully characterized. Our group has pioneered the generation and use of multi-omic data (genomics, epigenomics, transcriptomics, proteomics, metabolomics, and lipidomics). We recently generated proteomics data (7028 aptamers, SomaScan 7K) in cerebrospinal fluid (CSF) from over 3000 individuals. In my talk, I will be presenting three projects based on this data. In thefirst project, we performed genome-wide association study (GWAS) of sTREM2 and subsequent follow-up functional validation with human peripheral blood mononuclear cell (PBMC)-derived macrophages to identify genetic modifiers that can serve as novel therapeutic targets for AD. In the second project, we performed protein quantitative trait loci (pQTL) and subsequent integration with proteome-wide association study (PWAS),Mendelian randomization (MR), and co-localization to prioritize novel candidate genesinvolved in AD. In the third project, we identified sex and aging signatures in human CSF proteomics and distinct clusters that are linked to human aging diseases. These three projects support the development of proteomics data in neurologically-relevant tissues, which ultimately help creating individualized disease risk evaluation and treatment.