01 January 2020 → 31 October 2026
Regional and community funding: Special Research Fund
- Genetic predisposition
Inherited retinal disease genomics transcriptomics proteomics interaction profiling splicing cis-regulation iPSC photoreceptor precursor cell CRISPR/Cas9 editing Xenopus tropicalis antisense oligonucleotide treatment
This multidisciplinary project aims (1) to decipher cis-regulation in human retina by chromatin conformation profiling, and by the study of regulatory elements in a human and animal model;; (2) to design an integrative framework for omics data analysis to explain missing heritability in inherited
blindness;; (3) to design and test antisense oligonucleotide-based treatments of novel targets, ultimately resulting in precision medicine for inherited blindness.