Abstract
Presentation Description :
While protein coding variants have largely been the focus of disease gene and variant discovery, it is increasingly apparent that noncoding genetic variants contribute to ocular and systemic disease. Two major classes of noncoding variants are intronic variants that impact splicing of gene products and regulatory variants (promoter, enhancer, silencer) that impact gene expression. Confirmation of pathogenicity of these variants can be a challenge and often requires in vitro or in vivo functional assays, which are less standardized than for coding variants. Nanophthalmos, a condition characterized by a small but structurally normal eye, is a great example of a genetic disorder in which variants in known coding genes explain only a small fraction of cases (~20%). Thus, discovery of non-coding variants hold significant promise for uncovering the genetic basis of disease for this condition. In this talk, discovery of noncoding variants and functional validation of these variants will be discussed, using nanophthalmos as an example.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.