RESTORE: Restoring defective splicing of genes mutated in inherited blindness (RESTORE)

This project focuses on development of antisense oligonucleotide therapy for restoring defective splicing in Stargardt disease (ABCA4 associated) and Usher syndrome (USH2A associated). We will target deep-intronic mutations that lead to the inclusion of a pseudo-exon and non-canonical splice mutations that lead to the activation of a cryptic splice site. In addition, we will search for deep-intronic mutations in patients with mono-allelic mutations in ABCA4 and USHA2.