GEL

Cross species transcriptome analysis can be a powerful tool for identifying rare disease genes. By looking at the transcriptome of a variety of species, including humans, it is possible to identify genes that are differentially expressed in the diseased state. This can help to identify both disease-causing genes and genes that are involved in the disease process.

Ocular coloboma arises from genetic or environmental perturbations which inhibit optic fissure fusion in early eye development. Despite high genetic heterogeneity, 70-85% of patients remain molecularly undiagnosed. We report BMPR1B as a novel causative gene using cross-species comparative meta-analysis.

ARVO Annual Meeting 2022

Purpose: Ocular coloboma arises from genetic or environmental perturbations that inhibit optic fissure (OF) fusion during early eye development. Despite high genetic heterogeneity, 70% to 85% of patients remain molecularly undiagnosed. In this study, we have identified new potential causative genes using cross-species comparative meta-analysis.

Research Networking Event