Understanding the Huge Impact of Single Base Variation on Gene in AMD

This project seeks to elucidate each functional role of three Single nucleotide polymorphisms (SNP) on ARMS2/HTRA1 to find the suitable therapeutic method in AMD. We will edit each SNP separately by CRISPR technology on the iPSC that is derived from patient samples. Then, apply genome surgery to convert individual ARMS2 and HTRA1 alleles between low- (G-wt-G) and high-risk (T-wt-G, G-in/del-G, and G-wt-A) in patient-derived (iPS) cells. Our hypothesis is that genome surgery can be used to do this. We have also developed iPS cell lines from patients with AMD that are heterozygous for the high-risk alleles. Using gene editing, we will alter their AMD risk alleles from high-risk to low-risk.