Yale scientists have made an incredible genetic breakthrough by creating the first single-cell transcriptomic atlas of the human retina. They performed massively parallel single-cell RNA sequencing of the human retina using two independent platforms.
The discovery, led by Brian Hafler, assistant professor of Ophthalmology and Visual Science and of Pathology and his team, appears in recent research article, “Single-Cell Transcriptomic Atlas of the Human Retina Identifies Cell Types Associated with Age-Related Macular Degeneration” in the journal, Nature Communications. The research team included collaborators at Massachusetts Institute of Technology and Harvard University.
This discovery allows researchers and clinicians to localize the effects of macular degeneration risk genes to specific cell-types. In addition to cones, the cell type critical for central vision, they demonstrate the importance of glial and vascular support cells in disease pathogenesis. Clinicians and researchers can now develop a genetic framework and novel target therapies to improve and restore vision.