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Research projects
FRANCE
ILE-DE-FRANCE
EVRY
Retinal tissue engineering from human pluripotent stem cells for the treatment of retinal dystrophies
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques
FRANCE
ILE-DE-FRANCE
PARIS
Hereditary dystrophies of retina: physiopathologic and clinic research
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANCE
ILE-DE-FRANCE
PARIS
Hereditary dystrophies of retina: pharmacological research and new therapeutics development (cell and gene therapies)
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANCE
ILE-DE-FRANCE
PARIS
eyePS: Modeling and treatment of retinal dystophies with iPS cells - FR
Institut de la Vision
Centre de Recherche Institut de la Vision
FRANCE
OCCITANIE
MONTPELLIER
Genetics of autosomal recessive retinitis pigmentosa and of macular dystrophies
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
FRANCE
OCCITANIE
MONTPELLIER
Dominant autosomic retinitis pigmentosa: prevalence of known genes and identification of new ones
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
FRANCE
PAYS DE LA LOIRE
NANTES
Evaluation of the immune response in Briards dogs RPE65 -/- treated with gene therapy
CHU de Nantes - Hôtel Dieu
Vecteurs viraux et transfert de genes in vivo
GERMANY
Baden-Württemberg
TÜBINGEN
Rate of Progression in USH2A Related Retinal Degeneration
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik
ITALY
LAZIO
ROMA
Understanding molecular basis for Inherited Retinal Diseases (IRDs)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
ITALY
LIGURIA
GENOVA
Development and application of optoneural prosthetic devices as a therapeutic approach for Retinitis pigmentosa
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Dipartimento di Medicina Sperimentale
JAPAN
JAPAN
MIYAGI
Intensive genetic analysis and elucidation of the pathology by genome editing aiming at gene-specific treatment for retinitis pigmentosa
Tohoku University Graduate School of Medicine
Department of Advanced Ophthalmic Medicine
JAPAN
JAPAN
OKAYAMA
Manufacture and quality control, first-in-human feasibility study as investigator (doctor)-initiated clinical trial for Okayama University-type retinal prosthesis (OUReP)
Okayama University Medical School
Department of Ophthalmology
JAPAN
JAPAN
TOKYO
Omics analysis to identify disease-causing mutation and molecular mechanism of inherited retinal diseases, inherited glaucoma and inherited optic neuropathy
National Hospital Organization Tokyo Medical Center
National Institute of Sensory Organs
NETHERLANDS
Gelderland
NIJMEGEN
Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
NETHERLANDS
Gelderland
NIJMEGEN
Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Oogheelkunde
SPAIN
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Andalucía
SEVILLA
Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
SPAIN
Cataluña
BARCELONA
Mitochondrial and metabolic dynamics in a retinitis pigmentosa model. A new therapeutic approach?
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética, Biología y Estadística
SPAIN
Comunidad Valenciana
VALENCIA
Development of anti-inflammatory nanotherapies for retinitis pigmentosa
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica
SPAIN
Madrid
MADRID
Lost heritability in sRP and LCA cases. Search for CNVs and new variants
Fundación Jiménez Díaz
Área de Genética y Genómica
SWEDEN
Region Skåne
LUND
Retinal transplantation: strategies for clinical therapy of Retinitis pigmentosa
Lund University
Division of Ophthalmology
SWEDEN
Region Stockholm
STOCKHOLM
Genetic and molecular mechanisms in familial visual impairment
Karolinska Institutet - Solna
Department of molecular medicine and surgery
UNITED KINGDOM
Oxfordshire
HEADINGTON
Development of novel tests to assess visual function in patients with inherited retinal degeneration.
John Radcliffe Hospital, University of Oxford
Nuffield Department of Clinical Neurosciences
UNITED STATES
California
BERKELEY
Function of ciliary disease protein retinitis pigmentosa gtpase regulator (rpgr)
University Of California Berkeley
Ophthalmology
UNITED STATES
South Carolina
COLUMBIA
Rate of Progression in USH2A Related Retinal Degeneration
Foundation Fighting Blindness
Foundation Fighting Blindness USA
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Preclinical innovation
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Drug discovery and mechanistic study of p23h rhodopsin associated retinitis pigmentosa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Large animal therapy studies
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Broad-band opsin and targeted optical-delivery for retinitis pigmentosa treatment
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cone rescue in retinitis pigmentosa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Crumbs proteins for photoreceptor development and health maintenance
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Development of allele independent gene therapy strategies for autosomal dominant retinitis pigmentsa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanism of death of bystander retinal cells during mcmv infection
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanistic studies on regenerative medicine approaches to childhood blindness
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Neuroprotective mechanisms of inosine monophosphate dehydrogenase inhibitors in retinitis pigmentosa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Novel imaging of rod oxidative stress in retinal disease and treatment in vivo
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Targeting retinitis pigmentosa using nanoparticle-mediated delivery of genomic dna
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of retinal disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Imaging the functional biomarker of photoreceptors
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Modulation of lipid bisretinoids clearance with beta-cyclodextrins
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Noninvasive assessment of pathophysiology in retinitis pigmentosa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Role of microglia in retinitis pigementosa
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The role of arap1 in retinal photoreceptor homeostasis
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Color vision in inherited retinal degenerations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Disease mechanism and therapies for retinal degeneration
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genomic analysis in genes responsible for eye abnormalities in patients
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Human rhodopsin-adrp studies
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Inherited ocular diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Interventional approaches for restoring vision
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The focal electro-oculogram in macular disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Retinal gene therapy
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Preclinical safety studies
Institution: Information not provided - US
SPAIN
Madrid
MADRID
Retinal Dystrophies: genomic, cellular, functional and bioinformatic approaches to accelerate their diagnosis and treatment and to measure their impact
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity - FR
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCE
GRAND-EST
STRASBOURG
Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCE
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
FRANCE
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
FRANCE
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"
FRANCE
OCCITANIE
MONTPELLIER
Developing and studying the effects of innovative therapies for rare inherited retinal disease using human retinal models derived from patient iPS cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
GERMANY
Hessen
GIEßEN
Barrier free chromatic pupillometry in children from infancy on. A novel biomarker to quantify outer and inner retinal function in inherited retinal disorders as a measure of therapeutic benefit after gene therapy (SPP 2127: Gene and cell based therapies to counteract neuroretinal degeneration)
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde
IRELAND
County Dublin
DUBLIN
Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- GENOPOLE - Campus 1
- I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Institut de la Vision
- Centre de Recherche Institut de la Vision
- Université Pierre et Marie Curie - Paris 6
- Département Traitement des Informations Visuelles
- Department für Augenheilkunde Tübingen
- Forschungsinstitut für Augenheilkunde
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Faculté de Médecine Lyon Est
- Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
FRANCE
ILE-DE-FRANCE
EVRY
SightREPAIR: Preclinical validation of a stem cell-derived retinal pigmented epithelium for treatment of retinal degenerative diseases
FRANCE
ILE-DE-FRANCE
PARIS
RDCVF: rod-derived cone viability factor (TERMINATED)
FRANCE
ILE-DE-FRANCE
PARIS
eyePS: Modeling and treatment of retinal dystophies with iPS cells
FRANCE
ILE-DE-FRANCE
PARIS
OPTOREMODE: Retinitis Pigmentosa diagnosis and therapy: retinal remodeling and optogenetic reactivation of degenerated retina
GERMANY
Baden-Württemberg
TÜBINGEN
DRUGSFORD: Preclinical development of drugs and drug delivery technology for the treatment of inherited photoreceptor degeneration
ITALY
CAMPANIA
NAPOLI
AAVEYE: gene therapy for inherited severe photoreceptor diseases
NETHERLANDS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity
FRANCE
ILE-DE-FRANCE
PARIS
EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES