New Technologies to Study Functional Genomics of Age-Related Macular Degeneration

Tu Nguyen; Daniel Urrutia-Cabrera; Roxanne Hsiang-Chi Liou; Chi D Luu; Robyn Guymer; Raymond Ching-Bong Wong

doi:10.3389/fcell.2020.604220

New Technologies to Study Functional Genomics of Age-Related Macular Degeneration

Front Cell Dev Biol. 2021 Jan 11:8:604220. doi: 10.3389/fcell.2020.604220. eCollection 2020.

Authors

Tu Nguyen^{1

2}, Daniel Urrutia-Cabrera^{1

2}, Roxanne Hsiang-Chi Liou^{1

2}, Chi D Luu^{1

2}, Robyn Guymer^{1

2}, Raymond Ching-Bong Wong^{1

2}

Affiliations

¹ Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.
² Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC, Australia.

Abstract

Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in people over 50 years old in developed countries. Currently, we still lack a comprehensive understanding of the genetic factors contributing to AMD, which is critical to identify effective therapeutic targets to improve treatment outcomes for AMD patients. Here we discuss the latest technologies that can facilitate the identification and functional study of putative genes in AMD pathology. We review improved genomic methods to identify novel AMD genes, advances in single cell transcriptomics to profile gene expression in specific retinal cell types, and summarize recent development of in vitro models for studying AMD using induced pluripotent stem cells, organoids and biomaterials, as well as new molecular technologies using CRISPR/Cas that could facilitate functional studies of AMD-associated genes.

Keywords: CRISPR/Cas; age-related macular degeneration; induced pluripotent stem cell models; organoids; retina; single cell transcriptomics.

Publication types

Review