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Projetos de investigação
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPANHA
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
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
FRANCA
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
JAPAO
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
JAPAO
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
JAPAO
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
ALEMANHA
Baden-Württemberg
TÜBINGEN
Genetics and pathophysiology of autosomal recessive achromatopsia
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ALEMANHA
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
ALEMANHA
Baden-Württemberg
TÜBINGEN
Selecting the right patients for gene therapy: Development and implementation of a pathogenicity scoring system combined with functional in vitro and in vivo validation of gene variants and genotypes in patients with inherited retinal dystrophies as a criterium for the eligibility for gene therapy (SPP 2127)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ALEMANHA
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
ALEMANHA
Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
ALEMANHA
Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
ALEMANHA
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
AUSTRIA
TIROL
INNSBRUCK
Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie
BELGICA
VLAAMS BRABANT
LEUVEN
Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
ESPANHA
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US
FINLANDIA
Finland
TURKU
Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
NIRBTEST: New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles - FR
Institution: Information not provided - FR
FRANCA
AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCA
CENTRE-VAL DE LOIRE
ORLÉANS
First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose
FRANCA
ILE-DE-FRANCE
PARIS
Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genomic analysis in genes responsible for eye abnormalities in patients
Institution: Information not provided - US
ITALIA
LOMBARDIA
MILANO
Differential diagnosis of ocular and oculocutaneous albinism in the italian population: diagnostic workup and multidisciplinary study using molecular genetic characterization of the associated genes.
ASST Grande Ospedale Metropolitano Niguarda
S.S. Genetica Medica - S.C. Analisi Chimico Cliniche e Patologia Clinica
ALEMANHA
Saarland
HOMBURG
Description of clinical variability of ocular and cutaneous phenotypes in albinism
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie
ESPANHA
Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Animal models of ocular disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US
FRANCA
GRAND-EST
STRASBOURG
Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCA
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
FRANCA
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
FRANCA
NOUVELLE AQUITAINE
BORDEAUX
Molecular analysis of patients affected by oculo-cutaneous albinism
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCA
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"
FRANCA
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"
IRLANDA
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology
IRLANDA
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department
IRLANDA
County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics
ALEMANHA
Baden-Württemberg
TÜBINGEN
SOLSTICE: A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Treated Previously With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) in an Antecedent Study
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik
ALEMANHA
Bayern
MÜNCHEN
ENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
ALEMANHA
Hamburg
HAMBURG
Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
ALEMANHA
Niedersachsen
HANNOVER
DESCRIBE-PSP - Clinical Registry Study of Neurodegenerative Diseases in Patients with Progressive Supranuclear Paresis (PSP)
Medizinische Hochschule Hannover
Klinik für Neurologie
ALEMANHA
Nordrhein-Westfalen
AACHEN
ENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (coordinator)
Universitätsklinikum Aachen
Institut für Humangenetik
ALEMANHA
Nordrhein-Westfalen
AACHEN
POTSKog-Study Aachen: Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies
Universitätsklinikum Aachen
Klinik für Neurologie
ALEMANHA
Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie
ALEMANHA
Saarland
HOMBURG
Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
ENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (coordinator)
European Commission
DG Research - Directorate General for Research
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
ENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
European Commission
DG Research - Directorate General for Research
CANADA
Alberta
EDMONTON
Choroideremia, Expanding our Understanding, Exploring Treatments
University of Alberta
CHM
ESPANHA
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
ESPANHA
Madrid
MADRID
Deciphering the molecular basis of ophtalmogenetic diseases: sequencing the whole genome using a long reads approach - ES
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of retinal disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Inherited ocular diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The focal electro-oculogram in macular disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical and clinical studies of ntbc and other compounds as potential treatments for albinism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical and clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Proteins from hereditary eye diseases: in silico and experimental studies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Clinical research of oral connective tissue program
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Impact of coding and non-coding variation in progressive supranuclear palsy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuroimaging biomarkers in parkinsonism: differentiating subtypes and tracking disease progression
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Characterization of the role of pofut2-mediated o-fucosylation in folding thrombospondin type 1 repeats and development
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Protein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
CRMCC (cerebroretinal microangiopathy with calcifications and cysts)
HUS - Helsinki University Hospital
New Children's Hospital
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Genetic fragmentation of the hereditary optic neuropathy nonsyndromic autosomal recessive and dominant
Institution: Information not provided - FR
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCA
GRAND-EST
STRASBOURG
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Partner 2)
Faculté de médecine de Strasbourg - Louis Pasteur
iCube CSTB
FRANCA
HAUTS-DE-FRANCE
LILLE
Diagnostic and therapeutic approach of neurodegenerative disorders with tauopathy and synucleopathy : Alzheimer disease, progressive supranuclear palsy, frontotemporal lobe dementia, Lewy body dementia
Faculté de Médecine de Lille Pôle Recherche
Centre de Recherches Jean-Pierre Aubert (CRJPA)
FRANCA
PAYS DE LA LOIRE
ANGERS
Therapy of energy deficiency in models of hereditary optic neuropathy
CHU d'Angers
Service de génétique
FRANCA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Understanding the molecular mechanisms underlying familial dysautonomia
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille
IRLANDA
County Dublin
DUBLIN
BRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases - IE
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute
ITALIA
FRIULI VENEZIA GIULIA
TRIESTE
Development of Exon Specific U1 snRNA-based therapy for Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory
ITALIA
FRIULI VENEZIA GIULIA
TRIESTE
A novel exon-specific U1 snRNA strategy to correct splicing in Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory
JAPAO
JAPAN
NIIGATA
Development of valid evidence for clinical practice by establishing registry and biosample repository for patients with progressive supranuclear palsy and related tauopathy
Brain Research Institute, Niigata University
SUECIA
Region Stockholm
STOCKHOLM
Genetic and molecular mechanisms in familial visual impairment
Karolinska Institutet - Solna
Department of molecular medicine and surgery
SUICA
Suisse Alémanique
BASEL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - CH
Universitätsspital Basel
Department of Biomedicine
ALEMANHA
Baden-Württemberg
TÜBINGEN
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ALEMANHA
Bayern
REGENSBURG
Understanding the basic pathology of BEST1-associated bestrophinopathies and seeking therapeutic compounds to ameliorate the deleterious effects on vision
Universitätsklinikum Regensburg
Zentrum für Humangenetik Regensburg
ALEMANHA
Niedersachsen
OLDENBURG
TreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik
AUSTRIA
WIEN
WIEN
PAROS: A Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber's Hereditary Optic Neuropathy (LHON) - AT
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Augenheilkunde und Optometrie
BELGICA
OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Center for Medical Genetics Gent
Centrum voor Medische Genetica
ESPANHA
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular
ESPANHA
Madrid
MADRID
Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Wnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Color vision in inherited retinal degenerations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Evaluation of interferon gamma-1b administered topically for macular edema/intraretinal schisis cysts in rod-cone dystrophy (rcd) & enhanced s-cone syndrome (escs)
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Ocular gene therapy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
EVRY
Stem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques
ITALIA
LAZIO
ROMA
Role of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPAO
JAPAN
TOKYO
Drug discovery for intractable hereditary optic neuropathy by use of optic nerve cells generated from human pluripotent stem cells
National Center for Child Health and Development
Division of Ophthalmology
PAISES BAIXOS
Utrecht
UTRECHT
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg
PAISES BAIXOS
Zuid-Holland
LEIDEN
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde
REINO UNIDO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SUECIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
ALEMANHA
Baden-Württemberg
TÜBINGEN
European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder (partner DE)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor
ALEMANHA
Baden-Württemberg
TÜBINGEN
Rate of Progression in USH2A Related Retinal Degeneration
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik
ALEMANHA
Berlin
BERLIN
Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
ALEMANHA
Hessen
GIEßEN
Natural History Study of CEP290-Related Retinal Degeneration
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde
ALEMANHA
Rheinland-Pfalz
MAINZ
Characterization of the retinal phenotype and pre-clinical evaluation of AAV mediated gene augmentation in the transgenic USH1C pig
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum
ALEMANHA
Rheinland-Pfalz
MAINZ
VLGR1 signaling at focal adhesions and ICD release as a non-canonical signaling pathway of aGPCRs
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum
ALEMANHA
Sachsen
DRESDEN
EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
AUSTRIA
TIROL
INNSBRUCK
Mobility_APP - Mobility in Atypical Parkinsonism: a Randomized Trial of Physiotherapy - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
AUSTRIA
TIROL
INNSBRUCK
Pharmacotherapeutic potential Cav1.4 calcium channels
Universität Innsbruck
Institut für Pharmazie
AUSTRIA
WIEN
WIEN
Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following Descemet's Membrane Endothelial Keratoplasty Using Ultra-high Resolution Optical Coherence Tomography
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für klinische Pharmakologie
AUSTRIA
WIEN
WIEN
Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following Descemet's Membrane Endothelial Keratoplasty Using Ultra-high Resolution Optical Coherence Tomography
Hanusch Krankenhaus
VIROS - Vienna Institute for Research in Ocular Surgery
CANADA
Ontario
TORONTO
Molecular regulation of progenitor cell behaviour in the developing retina
University of Toronto
Cell & Systems Biology
ESPANHA
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
ESPANHA
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
ESPANHA
Madrid
MADRID
Lost heritability in sRP and LCA cases. Search for CNVs and new variants
Fundación Jiménez Díaz
Área de Genética y Genómica
ESPANHA
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
ESTADOS UNIDOS
California
BERKELEY
Function of ciliary disease protein retinitis pigmentosa gtpase regulator (rpgr)
University Of California Berkeley
Ophthalmology
ESTADOS UNIDOS
California
SAN FRANCISCO
Cortical structure and function in blindness and following restored vision
University Of California, San Francisco
Neurology
ESTADOS UNIDOS
South Carolina
COLUMBIA
Rate of Progression in USH2A Related Retinal Degeneration
Foundation Fighting Blindness
Foundation Fighting Blindness USA
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Preclinical innovation
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Drug discovery and mechanistic study of p23h rhodopsin associated retinitis pigmentosa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The role of complement in recessive stargardt disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Large animal therapy studies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Broad-band opsin and targeted optical-delivery for retinitis pigmentosa treatment
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Cone rescue in retinitis pigmentosa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Crumbs proteins for photoreceptor development and health maintenance
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Development of allele independent gene therapy strategies for autosomal dominant retinitis pigmentsa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanism of death of bystander retinal cells during mcmv infection
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanistic studies on regenerative medicine approaches to childhood blindness
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuroprotective mechanisms of inosine monophosphate dehydrogenase inhibitors in retinitis pigmentosa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Non-hydrolysable analogs of retinal chromophore; potential new therapeutics to prevent retinal degeneration
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Novel imaging of rod oxidative stress in retinal disease and treatment in vivo
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Targeting retinitis pigmentosa using nanoparticle-mediated delivery of genomic dna
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Imaging the functional biomarker of photoreceptors
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Modulation of lipid bisretinoids clearance with beta-cyclodextrins
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Noninvasive assessment of pathophysiology in retinitis pigmentosa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Role of microglia in retinitis pigementosa
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The role of arap1 in retinal photoreceptor homeostasis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Use of systems pharmacology to prevent rod and cone photoreceptor degeneration
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Disease mechanism and therapies for retinal degeneration
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Human rhodopsin-adrp studies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Interventional approaches for restoring vision
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Large animal (dog) experimental support module
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of early eye development
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Retinal gene therapy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Preclinical safety studies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Retinal aging and inherited neurodegenerative diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Reciprocal signaling in synaptogenesis
Institution: Information not provided - US
FINLANDIA
Finland
JYVÄSKYLÄ
Psychological well-being in families having a child with a Usher syndrome
University of Jyväskylä
Department of Psychology
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Cartography and genetic identification of genes involved in child motor neuropathies
Institution: Information not provided - FR
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Proof of principle of an original therapeutic strategy for a rare disease, dominant optic atrophy
Institution: Information not provided - FR
FRANCA
GRAND-EST
STRASBOURG
Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCA
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
FRANCA
ILE-DE-FRANCE
PARIS
Animal model creation of Stargardt disease by interfering RNA
Hôpital Necker-Enfants Malades
Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
FRANCA
ILE-DE-FRANCE
PARIS
Decoding the genetic of Leber congenital amaurosis and progression of the therapeutic approach by exon skipping of the major mutation of the CEP290 gene
Hôpital Necker-Enfants Malades
Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement
FRANCA
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
FRANCA
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
FRANCA
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
FRANCA
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"
FRANCA
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"
FRANCA
PAYS DE LA LOIRE
NANTES
GT-AAVRPGRIP: evaluation of a recombinant Adeno-Associated Vector serotype 5 (rAAV-5) vector for the gene replacement therapy of a new canine model of Leber congenital amaurosis (LCA) : the Dachshund dog RPGRIP-/-
CHU de Nantes - Hôtel Dieu
Vecteurs viraux et transfert de genes in vivo
FRANCA
PAYS DE LA LOIRE
NANTES
Development of a preclinical rat model of RDH12 -/- (congenital Leber amaurosis ) and characterization of its clinical phenotype
CHU de Nantes - Hôtel Dieu
Vecteurs viraux et transfert de genes in vivo
FRANCA
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
IRLANDA
County Dublin
DUBLIN
Inherited childhood sight loss: understanding visual cycle biology to develop treatments
University College Dublin
UCD Conway Institute of Biomolecular and Biomedical Research
ITALIA
CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl
ITALIA
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
ITALIA
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
ITALIA
TOSCANA
PISA
Cone dystrophies and retinal degeneration from protein structures to biological networks. Toward the design of therapeutic molecules
Università degli Studi di Pisa-Istituto di Fisiologia
Istituto di Fisiologia
ITALIA
VENETO
VERONA
Cone dystrophies and retinal degeneration from protein structures to biological networks. Toward the design of therapeutic molecules
Università degli Studi di Verona
Dipartimento di Neuroscienze, Biomedicina e Movimento
JAPAO
JAPAN
KYOTO
Development and standardization of molecular pathological diagnosis for bullous keratopathy
Kyoto Prefectural University of Medicine
Department of Ophthalmology
JAPAO
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
JAPAO
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
JAPAO
JAPAN
OSAKA
Research on the identification of small molecule compounds for the treatment ofgelatinous drop-like corneal dystrophy
Osaka University Graduate School of Medicine
JAPAO
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
PAISES BAIXOS
Gelderland
NIJMEGEN
Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAISES BAIXOS
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
PAISES BAIXOS
Gelderland
NIJMEGEN
Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Oogheelkunde
PAISES BAIXOS
Noord-Holland
AMSTERDAM
A retinal origin of congenital nystagmus
Nederlands Herseninstituut
REINO UNIDO
Greater London
LONDON
The role of transcription factors in regulating expression of BBS (Bardet-Biedl Syndrome) proteins
GOSH NHS Foundatin Trust
Molecular Medicine Unit
REINO UNIDO
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
REINO UNIDO
Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences
SUECIA
Region Skåne
LUND
Retinal transplantation: strategies for clinical therapy of Retinitis pigmentosa
Lund University
Division of Ophthalmology
ALEMANHA
Bayern
REGENSBURG
Allele-specific suppression of pathogenic Bestrophin-1 transcripts by targeted CRISPR/Cas9-mediated genome editing
Universitätsklinikum Regensburg
Zentrum für Humangenetik Regensburg
ESPANHA
Madrid
MADRID
A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B) - ES
Fundación Jiménez Díaz
Área de Genética y Genómica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Therapeutic genome editing to treat best disease
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Natural history and genetic studies of usher syndrome
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pilot study to evaluate oral minocycline in the treatment of cystoid macular edema associated with retinitis pigmentosa
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
PARIS
Modeling the Usher Syndrome type I (USH1) retinopathy in pig: physiopathology and gene therapy
Institut Pasteur
Génétique et Physiologie de l'audition - Inserm U1120 Paris 6
Projetos de investigação multicêntricos
- 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
- Department für Augenheilkunde Tübingen
- Forschungsinstitut für Augenheilkunde
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Institution: Information not provided - NL
- Department of Health
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Centre hospitalier universitaire Sainte-Justine
- Génétique médicale
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- CHU d'Angers
- Service de génétique
- CHU d'Angers
- INSERM U 694 - Laboratoire de biochimie
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Institution: Information not provided - UK
- St Mary's Hospital
- Manchester Cente for Genomic Medicine
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Institut für Zoologie der Universität Mainz
- Institut für Zoologie - Abt. I - AG Wolfrum
- GENOPOLE - Campus 1
- I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques
- Centre hospitalier national d'ophtalmologie des Quinze-Vingts
- Centre de Référence REFERET
- Institut Pasteur
- Génétique et Physiologie de l'audition - Inserm U1120 Paris 6
- Institut Pasteur
- Génétique et Physiologie de l'audition - Inserm U1120 Paris 6
- 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
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ALEMANHA
Baden-Württemberg
TÜBINGEN
DRUGSFORD: Preclinical development of drugs and drug delivery technology for the treatment of inherited photoreceptor degeneration
FRANCA
ILE-DE-FRANCE
PARIS
Réseau sur les neurofibromatoses
FRANCA
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses
PAISES BAIXOS
Utrecht
ADDRESS: NOT PROVIDED - NL
NIRBTEST: New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles
REINO UNIDO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCA
ILE-DE-FRANCE
PARIS
EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)
REINO UNIDO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
REINO UNIDO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
SUICA
Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema
CANADA
Québec
MONTRÉAL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANCA
PAYS DE LA LOIRE
ANGERS
ERMION: European research project on Medelian inherited optic neuropathy
FRANCA
PAYS DE LA LOIRE
ANGERS
Réseau national d'étude des atrophies optiques dominantes
ITALIA
CAMPANIA
NAPOLI
AAVEYE: gene therapy for inherited severe photoreceptor diseases
ITALIA
LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome
REINO UNIDO
Greater Manchester
ADDRESS: NOT PROVIDED - UK
BRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases
REINO UNIDO
Greater Manchester
MANCHESTER
NIMBL: Nuclease Immune Mediated Brain and Lupus-like conditions (NIMBL): natural history, pathophysiology, diagnostic and therapeutic modalities with application to other disorders of autoimmunity (TERMINATED)
REINO UNIDO
West Midlands
BIRMINGHAM
Midlands Muscle Network
ALEMANHA
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
ALEMANHA
Rheinland-Pfalz
MAINZ
Eur-USH: European young investigators network for Usher syndrome
FRANCA
ILE-DE-FRANCE
EVRY
SightREPAIR: Preclinical validation of a stem cell-derived retinal pigmented epithelium for treatment of retinal degenerative diseases
FRANCA
ILE-DE-FRANCE
PARIS
RHORCOD: comprehensive analysis of rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations
FRANCA
ILE-DE-FRANCE
PARIS
Réseau sur les surdités héréditaires
FRANCA
ILE-DE-FRANCE
PARIS
TREATRUSH: fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment
FRANCA
ILE-DE-FRANCE
PARIS
RDCVF: rod-derived cone viability factor (TERMINATED)
FRANCA
ILE-DE-FRANCE
PARIS
eyePS: Modeling and treatment of retinal dystophies with iPS cells
FRANCA
ILE-DE-FRANCE
PARIS