Age-related macular degeneration (AMD) is the primary cause of blindness in the developed world and will become an increasingly large burden on the healthspan of our ever-aging population. Recent studies have demonstrated a strong association between AMD and non-coding variants in a specific region of the human genome containing two potential target genes (HTRA1 and ARMS2). We are using our technology for constructing and delivering very large DNA regions to build dozens of designed versions of this region, deliver them to model cell lines, and identify specific functional alleles and their AMD-related effects. As the eye represents one of the few tissues amenable to current gene therapy techniques, identifying specific genetic changes giving rise to AMD will be a critical step in developing AMD-correcting gene therapies.

Read about how we assembled the 119 kb HTRA1/ARMS2 locus in Laurent et al., Precision Clinical Medicine, 2019.

IN COLLABORATION WITH:

Sally Temple, PhD, Neural Stem Cell Institute