Precision medicine in inherited blindness using integrated omics in human and animal models

Unraveling the role of retinal cis-regulatory elements of the USH2A gene, located in an ultraconserved genomic regulatory block

European Training Program to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases

3D genome topology and multi-omics in granulosa cells to decipher the regulation of FOXL2, a key factor in ovarian development and maintenance

Role of the ultraconserved IRXA cluster in North Carolina Macular Dystrophy, a retinal enhanceropathy

An integrated CRISPR/iPSC-based approach to elucidate uncertain variation in RPE65, a target for gene therapy

3D-RET: unlocking 3D genome architecture in human retina using C-technologies

Pathomechanistic study of RCBTB1-associated inherited retinal disease using Xenopus tropicalis and patient-derived induced pluripotent stem cells

Cofunding core facility - UGent NGS Core

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT

Microelectrode arrays (MEAs): generally used equipment to measure the functional activity of electrogenic cells.

Elucidating the role of cis-regulation and of ultraconserved non-coding elements associated with the choroideremia gene CHM

European Training Network to Diagnose: Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder - StarT

A novel CRISPR/Cas9-based workflow in Xenopus tropicalis to test the pathogenicity of human missense variants implicated in inherited blindness

Elcudating the role of the cis-regulatory landscape of ABCA4 in Stargardt disease, the most common inherited retinal disease

Elucidating the role of the cis-regulatory landscape of ABCA4 in Stargardt disease, the most common inherited retinal disease

In vivo study of the function of RCBTB1, a novel disease gene for inherited retinal dystrophy

Elucidation of a link between RCBTB1-associated inherited retinal dystrophy and ubiquitination by in vitro and in vivo studies

Sequencing Expertise Centre (Life Sciences)

EYE-­splice: towards more insights into the role of trans-acting pre­mRNA splicing dynamics in the pathogenesis of inherited blindness

Dissection of the cis-regulatory landscape of FOXL2

RESTORE: Restoring defective splicing of genes mutated in inherited blindness

Exploring the role of non-coding variation in inherited retinal dystrophies: NMNAT1 regulatory mutations as a proof of concept

EYE-splice: towards more insights into the role of cis-acting and transacting pre-mRNA splicing dynamics in the pathogenesis and treatment of inherited blindness

Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications

Dissection of the cis-regulatory landscape of FOXL2 in development and disease

HiSeq 2500: high throughput next-generation sequencer for ultrafast and cheap decoding of whole exomes, genomes, transciptomes, epigenomes and viromes.

Exploring the role of non-coding variation in hereditary blindness: Stargardt disease as a model

Use of an integrative classification system and next-generation sequencing strategies for gene identification in common variable immunodeficiency disorder (CVID).

NXT-EYE: integrated genomics and transcriptomics for gene identification in inherited retinal degeneration

Identification of new genes and disease modifier alleles for complex retinal dystrophies and ciliopathies

NXT-EYE: integrative strategy and identification of hereditary blindness

Cis-regulatorische mapping van de RPE-geexpresseerde transcriptie factor OTX2

Retinitis pigmentosa: gene discovery and functional analysis through advanced genomics and zebrafish studies

CIS-CODE: disruption of the regulatory code in human genetic disease

Disruption of cis-regulatory control as a cause of human genetic disease

Functional study of long-range genetic defects in human developmental disorders.

Belgian Genome Biobank

Design of a novel antisense oligonucleotide therapy for inherited blindness

Unraveling the molecular pathogenesis of XX disorders of sex development

PromethION: nanopore sequencer for high-throughput and long read high-fidelity DNA and RNA sequencing allowing fast decoding of (epi)genomes and (epi)transcriptomes

Retinitis pigmentosa: gene discovery and functional analysis through

Long-range genetic defects in human developmental disorders.

Study of the molecular pathogenesis of forkhead transcription factors in human developmental disorders.

Long-range genetic defects in human developmental disorders

The role of abnormal gene regulation in developing hereditary diseases

Long-range genetic defects in human forkhead-related disorders

Functional study of a novel, long non-coding RNA (lncRNA) upstream of ABCA4 in retina and blindness

Design of a novel antisense oligonucleotide therapy for inherited blindness