Rinki Ratnapriya, Ph.D.
Assistant Professor of Ophthalmology Baylor College of Medicine
“Integrative genomic approaches to uncover causal variants, genes, and molecular mechanisms in Age-related Macular Degeneration”
November 16, 2022
1:30 – 2:30 pm
R2-265, Academic Research Building
In contrast to the unprecedented success in identifying disease risk variants in Age-related Macular Degeneration (AMD) by Genome-wide association studies (GWAS), the progress of elucidating the functional relevance of genetic findings in AMD has significantly lagged. This is mainly attributed to our limited understanding of functional impact of associated, non-coding variants on gene function and molecular mechanisms underlying the disease. Trait and disease-associated variants are enriched in the cis-regulatory elements (CREs). Thus, gene expression regulation has emerged as a reliable intermediatorybetween non-coding risk variants and disease phenotype. We focus on elucidating the disease circuitry by extracting valuable information from large genomic, transcriptomic and epigenetic data to connect AMD-GWAS loci to causal variants, target genes and underlying mechanisms. Additionally, we augment novel AMD gene discovery by integration of GWAS data with machine learning and gene regulatory networks. The long-term goal for this research is to leverage the ever-expanding field of data science and genomics to translate the genetic findings in AMD for improving disease diagnosis, management and therapy