Molecular Signaling Differences in Systemic and Discoid Lupus Erythematosus
Project by Polygence alum Marshall
Project's result
I finished my project with a research paper that I submitted to the Connecticut STEM Fair, Connecticut Science and Engineering Fair, and will be submitting to the Joural of Young Investigators
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Summary
Systemic Lupus Erythematosus and Discoid Lupus Erythematosus are lupus subtypes with distinctive disease manifestations and genetic profiles. This study aims to investigate the differential expression of interferon-alpha/beta signaling in B cells of SLE and DLE patients. We hypothesize that SLE will have an increase in alpha/beta signaling compared to DLE due to SLE’s pathogenesis. This study was completed using clinical single-cell RNA sequencing (scRNAseq) data. In lupus, B cells are hyperactive and create autoantibodies that attack the body's own cells. Due to B cells' known role in lupus, they were chosen as the target cell type for this study. The B cell populations for each patient were computationally isolated and analyzed for differential gene expression. Gene Set Enrichment Analysis (GSEA) revealed that, in SLE, there is a statistically significant increase in the expression of interferon-alpha/beta signaling compared to DLE. This increase concurs with the systemic, multi-organ tenacity of SLE compared to the localized skin lesions created by DLE. These findings support interferon-alpha/beta signaling as a potential therapeutic target for SLE.
Joshua
Polygence mentor
PhD Doctor of Philosophy candidate
Subjects
Computer Science, Quantitative, Biology
Expertise
Bioinformatics, computational biology, immunology, stem cell biology, cancer biology, robotics, and data science.
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Marshall
Student
Graduation Year
2025
Project review
“The level of work I was able to accomplish under this mentorship, and the guidance I received was exemplary. I accomplished far more than I ever expected under this mentorship.”
About my mentor
“Joshua is an amazing mentor, and I learned so much under his guidance. I was able to complete a project far out of my skill set, but with Joshua's teaching, I felt comfortable and equipped to complete my project; he was able to break down topics that I found confusing into very manageable steps. Throughout the mentorship, I felt like he truly cared about my growth and success as a researcher, in addition to the success of the project.”
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