Project: Precision medicine in inherited blindness using integrated omics in human and animal models
2020-01-01 – 2026-10-31
- Abstract
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.
Show
Sort by
-
- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
-
- Journal Article
- A1
- open access
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
-
Characterising the refractive error in paediatric patients with congenital stationary night blindness : a multicentre study
-
- Journal Article
- A1
- open access
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
-
- Journal Article
- A1
- open access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
-
- Journal Article
- A1
- open access
A novel recurrent ARL3 variant c.209G>A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
-
- Journal Article
- A1
- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
-
- Journal Article
- A1
- open access
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development
-
- Journal Article
- A1
- open access
A proteogenomic atlas of the human neural retina
-
- Journal Article
- A1
- open access
Comparative 3D genome analysis between neural retina and retinal pigment epithelium reveals differential cis-regulatory interactions at retinal disease loci