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Bioinformatics Faculty Publishes Research on Eye Disease

Written by Nicole Carrera
Published on April 16, 2020

Randy Zauhar, PhD, professor of biochemistry and bioinformatics, along with his collaborators at University of Pennsylvania Medical School, recently had a manuscript published to the preprint server bioRxiv

The manuscript investigates the impact of age related macular degeneration (AMD) on gene expression changes across retinal cell types and regions using both single-cell RNA-sequence and bulk RNA-sequence data from macular and peripheral retina in postmortem human donors with and without AMD. 

The data revealed 11 major cell types with many previously reported AMD risk genes showing substantial cell type and region specificity. Cell type proportional changes with advancing AMD stage were significant for Müller glia, rods, astrocytes, microglia and endothelium.

AMD affects over 10 million Americans, twice the number affected by Alzheimer’s disease and equal to the total of all cancer patients combined.


Categories:  BioinformaticsPublicationMisher College of Arts and SciencesDepartment of Chemistry and BiochemistryFaculty