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34 Resultaat/Resultaten
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Onderzoeksprojecten
DUITSLAND
Baden-Württemberg
TÜBINGEN
Molecular genetic basis of BCM and the genetic mechanisms underlying the occurrence of mutations in the opsin gene cluster
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
DUITSLAND
Baden-Württemberg
TÜBINGEN
Elucidating exonic splice mutations and structural mutations in the cone opsin gene array on Xq28 underlying Blue Cone Monochromatism
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
DUITSLAND
Baden-Württemberg
TÜBINGEN
TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Department für Augenheilkunde Tübingen
Forschungsinstitut für Augenheilkunde
DUITSLAND
Bremen
BREMEN
TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Biolog Life Science Institute GmbH & Co. KG
Biolog Life Science Institute
DUITSLAND
Hessen
KASSEL
TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Universität Kassel
Department of Biochemistry
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
DUITSLAND
Schleswig-Holstein
LÜBECK
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models -DE
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Institut für Humangenetik
FRANKRIJK
GRAND-EST
STRASBOURG
Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANKRIJK
GRAND-EST
STRASBOURG
Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANKRIJK
ILE-DE-FRANCE
PARIS
Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANKRIJK
ILE-DE-FRANCE
PARIS
Research of drugs and therapeutic targets for rare retinal dystrophies using cell models from patients
Institut de la Vision
Centre de Recherche Institut de la Vision
FRANKRIJK
OCCITANIE
MONTPELLIER
Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
IERLAND
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology
IERLAND
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department
IERLAND
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics
ITALIË
CAMPANIA
NAPOLI
CRISPR/Cas9 microRNAs Editing as gene-independent therapeutic approach in Inherited Retinal Dystrophies (IRDs)
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALIË
CAMPANIA
NAPOLI
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - IT
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
SPANJE
Andalucía
SEVILLA
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - ES
Centro Andaluz de Biología del Desarrollo (CABD)
Control genético de la morfogénesis epitelial en vertebrados
SPANJE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPANJE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPANJE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPANJE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPANJE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPANJE
Comunidad Valenciana
VALENCIA
The cell therapeutic strategy for hereditary retinal dystrophies in small and large animals: MERTK associated Retinitis pigmentosa
Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe
Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe (CIPF)
SPANJE
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
SPANJE
País Vasco
SAN SEBASTIÁN
Development of diagnostic algorithms in patients with hereditary retinal dystrophies of the Basque Country, based on the sequencing of a panel of genes (targeted NGS) and whole genome (WGS)
Instituto de Investigación Sanitaria Biodonostia
USA
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
ZWITSERLAND
Suisse Alémanique
BASEL
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - CH
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
DUITSLAND
Nordrhein-Westfalen
BONN
IERLAND
County Dublin
DUBLIN
Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics
Multicentrische onderzoeksprojecten
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
- Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
- Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
BELGIË
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
EuroVisionNet: Visual Impairment and Degeneration: A Road-map for Vision Research within Europe (TERMINATED)
BELGIË
OOST-VLAANDEREN
GENT
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
FRANKRIJK
ILE-DE-FRANCE
PARIS