Our lab studies the genetics of inherited eye diseases, primarily using bioinformatics. My thesis project involves the use of massively parallel sequencing to understand the functional causes of ophthalmic diseases, specifically exfoliation syndrome (XFS) and primary open-angle glaucoma (POAG). Glaucoma is a leading cause of blindness in the world, and it is caused by death of the optic nerve. XFS increases the risk of developing glaucoma. Genome-wide association studies (GWASs) have revealed hundreds of loci associated with POAG and one locus associated with XFS. However, researchers know little about how variants in these loci contribute to disease pathology. We hypothesize that some of these variants cause disease by altering gene expression through changing transcription rates. In collaboration with others in the Institute for Vision Research, we use massively parallel reporter assays to identify specific variants and haplotypes in the loci identified by GWASs that function as transcriptional regulators of one or more genes. We then evaluate our findings using transcription factor binding site prediction tools and validate them using qPCR. As part of my research in inherited eye diseases, I am also using RNA-seq and single-cell sequencing methodologies to investigate gene expression changes in human donor eyes and iPSC-derived organoids.