Project

RESTORE: Restoring defective splicing of genes mutated in inherited blindness

Acronym
RESTORE
Code
3S012416
Duration
01 January 2016 → 31 December 2019
Funding
Research Foundation - Flanders (FWO)
Research disciplines
  • Natural sciences
    • Genetics
Keywords
splicing mutations Usher syndrome Stargardt disease retinal dystrophy Antisense oligonucleotides (AON)
 
Project description

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.