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

ThirdGenT: linking third-generation sequencing of (epi)genomes, (epi)transcriptomes and translatomes to life sciences revolutionizes oncology, rare diseases, microbiology, cell and gene technology, developmental and computational biology

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

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

Doctoral project Hannah Verdin

Doctoral project Miriam Bauwens

Doctoral project Prasoon Kumar Thakur

Mapping of 3D genome topologies in human retina, RPE, and retinal organoids and multi-omics for solving dominant retinopathies

Multi-omics in human retina to decode cis-regulatory landscapes of inherited retinal diseases genes

Pathomechanistic study of RCBTB1-associated inherited retinal disease using Xenopus tropicalis and iPSC-derived RPE cells

Role of 3D chromatin organization in the regulation of FOXL2, a key factor in ovarian development and maintenance

Solve-DSD: Solving missing heritability in Differences of Sex Development using second and third generation whole genome sequencing

Decoding the non-coding regulatory genome – Modelling of eye enhanceropathies in Xenopus tropicalis

Doctoral project Ine Strubbe

Doctoral project Manon Bouckaert

Precision medicine in inherited blindness using integrated omics in humans

Statistical methods for integrating multiple omics to explain missing heritability in genetic disease

The quest for a generic therapy for inherited blindness: NRF2 upstream open reading frames as a novel therapeutic target

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

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

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

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

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

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

Cofunding core facility - UGent NGS Core

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

Dissection of the cis-regulatory landscape of FOXL2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MultiRET: Multiomics profiling of human retina in health and retinopathies

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

NXT-EYE: integrative strategy and identification of hereditary blindness

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

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

RESTORE: Restoring defective splicing of genes mutated in inherited blindness

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

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

Sequencing Expertise Centre (Life Sciences)

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

Belgian Genome Biobank

Design of a novel antisense oligonucleotide therapy for inherited blindness

Long-range genetic defects in human developmental disorders.

Long-range genetic defects in human developmental disorders

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

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

The quest for a generic therapy for inherited blindness: NRF2 upstream open reading frames as a novel therapeutic target

Unraveling the molecular pathogenesis of XX disorders of sex development

Long-range genetic defects in human forkhead-related disorders

The role of abnormal gene regulation in developing hereditary diseases

Design of a novel antisense oligonucleotide therapy for inherited blindness

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