MARGARET M. DEANGELIS, PHD

Synopsis of Research

Utilizing both families and then replication in large case-control populations to study DNA, gene expression and protein coupled with epidemiological information, our group has identified novel biomarkers (RORA, ROBO1, CYP24A1) and pathways associated with age-related macular degeneration and then replicated these findings in large ethnically diverse case control patient populations. We demonstrated that RORA, an intracellular target of cholesterol, interacted with other established AMD genetic risk factors (ARMS2/HTRA1) thus furthering the development of a unifying hypothesis underlying AMD pathophysiology. To enhance our translational efforts, in 2013, our laboratory and team of ophthalmologists created a well characterized fresh human donor eye bank of tissue, blood, serum and plasma from private foundation grants awarded to Dr. DeAngelis. The creation of a well characterized fresh donor eye repository by our group to study healthy eyes compared to disease states including, AMD, has enabled us to employ and develop genome wide level multi-omic approaches, including miRNAseq, RNASeq, RNA- single nuclei-Seq, allele specific expression, epigenetic, and statistical/bioinformatic tools to delineate disease mechanism. This is done in an effort to develop appropriate therapeutic targets and biomarkers for the different clinical stages of blinding disease. currently there are no cures for age-related macular degeneration.

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