transcriptomics

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 crumbs cell polarity complex plays a crucial role in apical-basal epithelial polarity, cellular adhesion, and morphogenesis. Homozygous variants in human CRB1 result in autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), with no established genotype-phenotype correlation. We performed integrative transcriptomic and methylomic analysis of whole retina to identify dysregulated genes and pathways.

Single Cell Omics Workshop 2022

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.

ARVO Annual Meeting 2022

The combination of abundant data resources and cheap sequencing technology has resulted in a vast unexploited resource for single nucleotide polymorphism (SNP) detection.

Research Networking Event

Inherited optic neuropathies, including Leber Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA), are monogenetic …

Incomplete fusion of the optic fissure leads to ocular coloboma, a congenital eye defect that affects up to 7.5 per 10,000 births and …

Fibrosis-related events play a part in most blinding diseases worldwide. However, little is known about the mechanisms driving this complex multifactorial disease. Here we have carried out the first genome-wide RNA-Sequencing study in human conjunctival fibrosis…