multiomics

Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye malformations with microphthalmia and anophthalmia, collectively abbreviated to MAC. Despite deliberate attempts to identify causative variants in MAC, many patients remain without a genetic diagnosis. To reveal potential candidate genes, we utilised transcriptomes experimentally generated from embryonic eye tissues derived from human, mouse, zebrafish, and chicken at stages coincident with optic fissure closure

The homeostasis of the transparent corneal epithelium in the eye is maintained by limbal stem cells with proper cell fates. A potential disease mechanism underlying corneal opacity has been proposed to be limbal stem cells acquiring characteristics of keratinocytes of the non-transparent epidermis. We performed a multi-omics analysis of human limbal stem cells derived from the cornea and keratinocytes from the epidermis, and characterized their similar yet distinct molecular signatures.