Basic Clinical Lecture

The 2021 Basic Clinical Lecture will be presented from a basic perspective to clinical researchers.

Transcriptional Dynamics in Eye Development and Disease
Organizers: Elfride De Baere, Carlo Rivolta and Stephanie Hagstrom
Speakers: Anand Swaroop, Sandro Banfi, Janey Wiggs, Timothy Cherry, Seth Blackshaw and Magdalena Renner

Transcriptional regulation that establishes and maintains specific cell states in humans is controlled by transcription factors, cofactors, and chromatin regulators. Misregulation of gene expression programs can cause a broad range of rare and common eye diseases, such as inherited retinal diseases, developmental eye anomalies, corneal dystrophies, age-related macular degeneration, diabetic retinopathy, primary open-angle glaucoma. Recent technologies for studying transcription vary from single-molecule to genome-wide techniques. In addition, advances in single-cell RNA sequencing (scRNA-seq) technologies allow studying differences between single cells at the cell population level, enabling to address basic questions regarding the biology of cell types of the eye, for instance retina. Here, we discuss recent advances in RNA biology in the eye and transcriptional misregulation as cause of different eye diseases. Finally, we shed light on diagnostic strategies, the role of RNA molecules as biomarkers and as targets for novel therapeutic approaches.