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Forschungsprojekt(e)

Nordrhein-Westfalen
ESSEN
Retinoblastom-Register: Prospektives, multizentrisches, beobachtendes klinisches Register
Universitätsklinikum Essen
Klinik für Kinderheilkunde III

Nordrhein-Westfalen
ESSEN
ERA-NET TRANSCAN: NIRBTEST - Entwicklung eines neuen blutbasierten Tests zur Früherkennung von Tumoren bei erblicher Veranlagung für Retinoblastom
Universitätsklinikum Essen
Klinik für Kinderheilkunde III

ILE-DE-FRANCE
ORSAY
Stem cells and transdifferentiation of the retina: the retinoblastoma as a model study
Institut Curie
Mécanismes moléculaires et oncogenèse

Cataluña
ESPLUGUES DE LLOBREGAT
Immune microenvironment of retinoblastoma
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Baden-Württemberg
TÜBINGEN
Genetik und Pathophysiologie der autosomal-rezessiv erblichen Achromatopsie
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Baden-Württemberg
TÜBINGEN
Molekulare Genetik der Blauzapfenmonochromasie und Untersuchung der genetischen Mechanismen, die durch Mutationen im Opsin-Gencluster hervorgerufen werden
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Baden-Württemberg
TÜBINGEN
Auswahl der richtigen Patienten für Gentherapie: Entwicklung und Implementierung eines Pathogenitätsbewertungssystems komplementiert durch funktionelle in vitro und in vivo Validierung von Varianten bei Patienten mit erblichen Netzhautdystrophien als Kriterium für den Einschluß in Therapiestudien (SPP 2127)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Baden-Württemberg
TÜBINGEN
Aufklärung exonischer Splicingmutation und struktureller Mutationen im Zapfenopsin-Gencluster auf Xq28 als Ursache der Blauzapfenmonochromasie
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

BRETAGNE
BREST
Retrospective Comparison of the Efficacy of Methotrexate and Azathioprine as Background Treatment for Uveitis of Undetermined Origin: Single-centre Retrospective Study From 2005 to 2020
CHU de Brest - Hôpital de la Cavale Blanche
Service de Médecine interne

Galicia
SANTIAGO DE COMPOSTELA
Personalized Medicine for the Optimization of Immunomodulatory Treatment in Patients with Uveitis
IDIS - Instituto de Investigación Sanitaria de Santiago de Compostela
Instituto de Investigación Sanitaria de Santiago de Compostela

Washington
ADDRESS: NOT PROVIDED - US
Engineering AAV for safe and efficient gene delivery to the human retina
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Developing classification criteria for the uveitides
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Diagnosis and treatment of ocular inflammatory disease (uveitis)
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Novel model systems for the study of cone disorders and other heritable retinal diseases
Institution: Information not provided - US

Niedersachsen
HANNOVER
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie

Sachsen
DRESDEN
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches

NOUVELLE AQUITAINE
BORDEAUX
Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

NOUVELLE AQUITAINE
BORDEAUX
Further delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

NOUVELLE AQUITAINE
BORDEAUX
Whole-genome sequencing in the complex Oculo-Auriculo-vertebral spectrum: application on whole-exome seqeuncing negative familial cases versus direct analysis
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

County Dublin
DUBLIN
Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics

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

TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia

Madrid
MADRID
Search and identification of new genes which mutations may cause new types of albinism
Centro Nacional de Biotecnología (CNB-CSIC)
Grupo de Modelos animales para manipulación genética

Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology

California
BERKELEY
Gene expression in nonspecific orbital inflammatory disease
University Of California Berkeley
Ophthalmology

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

Washington
ADDRESS: NOT PROVIDED - US
Genomic analysis in genes responsible for eye abnormalities in patients
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular mechanisms of anterior segment disorders
Institution: Information not provided - US

Niedersachsen
GÖTTINGEN
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

Nordrhein-Westfalen
BONN
TOFU - Register zu Behandlungsaustrittsoptionen bei nicht-infektiöser Uveitis
Universitäts-Augenklinik Bonn

Saarland
HOMBURG
Beschreibung der klinischen Variabilität der okulären und kutanen Phänotypen bei Albinismus
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde

Schleswig-Holstein
LÜBECK
Solve-RET: Fehlende erbliche Ursachen für genetische Netzhauterkrankungen mit Hilfe von Multiomics und Gen-Editing in menschlichen Zell- und Tiermodellen
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Institut für Humangenetik

Schleswig-Holstein
LÜBECK
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

Schleswig-Holstein
LÜBECK
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Lübecker Institut für Experimentelle Dermatologie

GRAND-EST
STRASBOURG
Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique

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

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

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

NOUVELLE AQUITAINE
BORDEAUX
Molecular analysis of patients affected by oculo-cutaneous albinism
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

NOUVELLE AQUITAINE
BORDEAUX
The biopsychosocial determinants of dyadic adjustment to the disease in the albino subject and his close entourage: a mixed quali-quantitative approach
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)

OCCITANIE
MONTPELLIER
Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
CHU de Montpellier - Hôpital Saint-Eloi
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology

County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department

County Dublin
DUBLIN
Target 5000: A study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics

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

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

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)

Suisse Alémanique
BASEL
Genomics of inherited retinal diseases
Institute of Molecular and Clinical Ophthalmology Basel (IOB)

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

Andalucía
SEVILLA
Development of an integrative framework for personalized medicine in rare diseases: a multidisciplinary approach for diagnosis and gene discovery in inherited retinal dystrophies
Hospital Universitario Virgen del Rocío
FISEVI - Fundación Pública Andaluza para la gestión de la Investigación en Sevilla

Castilla - La Mancha
ALBACETE
Analysis of the genetic and molecular bases of congenital and juvenile glaucoma: Diagnostic and therapeutic implications
Universidad de Castilla-La Mancha. Campus de Albacete. Facultad de Medicina
Departamento de Genética

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)

Madrid
MADRID
Phenotyping of animal models of rare diseases with visual disability
Centro Nacional de Biotecnología (CNB-CSIC)
Grupo de Modelos animales para manipulación genética

Madrid
MADRID
Analysis of the genetic and molecular bases of congenital and juvenile glaucoma: Diagnostic and therapeutic implications
Universidad Complutense de Madrid. Facultad de Óptica y Optometría
Facultad de Óptica y Optometría

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

Washington
ADDRESS: NOT PROVIDED - US
Animal models of ocular disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
RNA-binding proteins in early eye development.
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating ion transport across the melanosomal membrane in health and disease
Institution: Information not provided - US

Baden-Württemberg
TÜBINGEN
TargetRD: PKG und CNGC als Targets für die mutationsunabhängige Therapie für erbliche Netzhautdegeneration
Department für Augenheilkunde Tübingen
Forschungsinstitut für Augenheilkunde

Baden-Württemberg
TÜBINGEN
SOLSTICE: Eine Langzeit-Follow-up-Studie zur Bewertung der Sicherheit und Wirksamkeit der Retina-Gentherapie bei Patienten mit Chorioideremie, die in einer vorangegangenen Studie mit einem Adeno-assoziiertem Virusvektor behandelt wurden, der das Rab Escort Protein-1 (AAV2-REP1) kodiert
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

Bayern
MÜNCHEN
ENISNIP: Europäisches Netzwerk für erbliche sensorische Neuropathien und Schmerzinsensitivität
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

Bayern
MÜNCHEN
ENISNIP: Europäisches Netzwerk zu vererbten sensorischen Neuropathien und Schmerzunempfindlichkeit (Partner DE)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

Berlin
BERLIN
Untersuchung von geeigneten Biomarkern bei Patienten mit Susac-Syndrom
Charité - Universitätsmedizin Berlin (CCM)
NeuroCure Clinical Research Center - AG Klinische Neuroimmunologie

Bremen
BREMEN
TargetRD: PKG und CNGC als Targets für die mutationsunabhängige Therapie für erbliche Netzhautdegeneration
Biolog Life Science Institute GmbH & Co. KG
Biolog Life Science Institute

Hamburg
HAMBURG
Genetische und funktionelle Untersuchungen zum Microphthalmia with linear skin defects (MLS) - Syndrom
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

Hessen
KASSEL
TargetRD: PKG und CNGC als Targets für die mutationsunabhängige Therapie für erbliche Netzhautdegeneration
Universität Kassel
Department of Biochemistry

Mecklenburg-Vorpommern
ROSTOCK

Niedersachsen
HANNOVER
DESCRIBE-PSP - Klinische Registerstudie zur Progressiven Supranukleären Parese (PSP)
Medizinische Hochschule Hannover
Klinik für Neurologie

Nordrhein-Westfalen
AACHEN
ENISNIP: Europäisches Netzwerk für erbliche sensorische Neuropathien und Schmerzinsensitivität
Universitätsklinikum Aachen
Institut für Humangenetik

Nordrhein-Westfalen
AACHEN
POTSKog Studie Aachen: Erforschung von Konzentrations- und Aufmerksamkeitsdefiziten sowie deren Pathophysiologie beim Posturalen Orthostatischen Tachykardie Syndrom (POTS) und anderen autonomen Neuropathien
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
MÜNSTER
Susac Syndrom (SuS) als Paradigma einer CD8 T-Zell vermittelten Endotheliopathie
Universitätsklinikum Münster
Klinik für Neurologie mit Institut für Translationale Neurologie

Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedizinische interdisziplinäre Versorgung von Patienten mit Ösophagusatresie
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie

Saarland
HOMBURG
AAK-INSIGHT: Aniridie - Neue therapeutische Instrumente zur Behandlung oder Verhinderung einer fortschreitenden Hornhauttrübung
Universitätsklinikum des Saarlandes
Dr. Rolf M. Schwiete Zentrum für Limbusstammzellforschung und kongenitale Aniridie

Saarland
HOMBURG
Das Homburger Keratokonuszentrum (HKC) - eine Keratokonus-Beobachtungsstudie
Universitätsklinikum des Saarlandes
Klinik für Augenheilkunde

Schleswig-Holstein
LÜBECK
Die Bedeutung des Komplementsystems an der Pathogenese des Schleimhautpemphigoids
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

Schleswig-Holstein
LÜBECK
Die Bedeutung des Komplementsystems an der Pathogenese des Schleimhautpemphigoids
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Lübecker Institut für Experimentelle Dermatologie

Finland
HELSINKI
CRMCC (cerebroretinal microangiopathy with calcifications and cysts)
HUS - Helsinki University Hospital
New Children's Hospital

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Genetic fragmentation of the hereditary optic neuropathy nonsyndromic autosomal recessive and dominant
Institution: Information not provided - FR

BOURGOGNE-FRANCHE-COMTE
DIJON
Endocannabinoid- and plasmalogen-dependent regulation of retinal vascular development in retinopathy of prematurity
CSGA- Centre des Sciences du Goût et de l'Alimentation
Oeil, nutrition et signalisation cellulaire

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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Combining molecular and functional genetics to decipher pathophysiological mechanisms in oculocutaneous albinism.
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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

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)

ILE-DE-FRANCE
PARIS
AAK-INSIGHT: Aniridia - Novel therapeutic tools to treat or prevent progressive cornea opacification - FR
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes

ILE-DE-FRANCE
PARIS
Congenital Aniridia Patient Questionnaire
Hôpital Necker-Enfants Malades
Service d'Ophtalmologie enfants et adultes

ILE-DE-FRANCE
PARIS
TRansdifferentiation for Autologous Corneal Cell ThERapy (TRACER)
Institut National de la Santé et de la Recherche Médicale

PAYS DE LA LOIRE
ANGERS
Therapy of energy deficiency in models of hereditary optic neuropathy
CHU d'Angers
Service de génétique

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

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

Alberta
EDMONTON
Choroideremia, Expanding our Understanding, Exploring Treatments
University of Alberta
CHM

WIEN
ADDRESS: NOT PROVIDED - AT
Aniridia: networking to address an unmet medical, scientific, and societal challenge - AT
Institution: Information not provided - AT

WIEN
ADDRESS: NOT PROVIDED - AT
Improve PSP (progressive supranuclears palsy) - AT
Institution: Information not provided - AT

WIEN
WIEN
Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination - A Pilot Study
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für klinische Pharmakologie

WIEN
WIEN
Correlation Between In-vivo Anatomy of Corneal Dystrophies as Assessed by High- Resolution Optical Coherence Tomography (OCT) Measurement and Histological Examination - A Pilot Study
Hanusch Krankenhaus
VIROS - Vienna Institute for Research in Ocular Surgery

Region Stockholm
SOLNA
Genetic and molecular mechanisms in familial visual impairment
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

Region Västra Götaland
GÖTEBORG
Molecular defence against retinopathy of prematurity: screening, prevention and treatment
Göteborgs Universitet
Institute of Neuroscience and Physiology

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

Cataluña
BARCELONA
PSP Registry: clinical cohort study with biomarkers study of prediagnostic cases and health education program in established disease
Hospital Clínic de Barcelona
Unidad de Parkinson y Trastornos del Movimiento

Navarra
PAMPLONA
Correlation between tau protein burden, neuronal dysfunction and clinical phenotype in patients with PSP: neuroimaging and histological studies
IdiSNA - Instituto de Investigación Sanitaria de Navarra
Instituto de Investigación Sanitaria de Navarra

California
BERKELEY
Mechanism of photoreceptor cell degeneration in animal models of retinal diseases
University Of California Berkeley
Ophthalmology

Washington
ADDRESS: NOT PROVIDED - US
Clinical and genetic analysis of retinopathy of prematurity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The molecular basis of liver induced retinal blood vessel plasticity.
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Analyzing retinal microanatomy in retinopathy of prematurity to improve care
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pathogenic role of epac1 signaling in retinopathy of prematurity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Inherited ocular diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US

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

Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical and clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular and immunopathology of experimental and clinical ocular diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Proteins from hereditary eye diseases: in silico and experimental studies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Impact of coding and non-coding variation in progressive supranuclear palsy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neuroimaging biomarkers in parkinsonism: differentiating subtypes and tracking disease progression
Institution: Information not provided - US

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

Washington
ADDRESS: NOT PROVIDED - US
Ibuprofen-caffeine modulation of retinal endothelial tip cell migration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neonatal translational
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Ocular nsaids/caffeine potentiation in oxygen-induced retinopathy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A portable ultra-widefield fundus camera for nonmydriatic examination of retinopathy of prematurity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
RetiVue WF - A Handheld, High-Resolution, Widefield Retinal Imager
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A novel exon-specific U1 snRNA strategy to correct splicing in Familial Dysautonomia
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Utility of PIP as a Novel Keratoconus Biomarker
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Artificial intelligence assisted panoramic Optical Coherence Tomography Angiography for Retinopathy of Prematurity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Role of Tgf-beta-signaling in corneal development and diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Photoreceptor Determination of Retinal Blood Vessel Growth in Retinopathy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The Mechanism of Immune-Vascular Crosstalk in Retinopathy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The Role of Wnt-regulated Collagen Dysfunction in Keratoconus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Inflammation and retinopathy of prematurity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Glucose/lipid metabolism and vessel development in phase I ROP
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Photoreceptor structure, function, and response to gene therapy in choroideremia
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Systems-Biology Analysis of Mechanisms Informing Preeclampsia-Mediated ROP Protection
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Topical Eyedrop Therapy for Keratoconus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cellular and Molecular Genetics of Keratoconus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Management of Blepharoptosis with Neodymium Magnet Systems: The Boston Blink-netic Project
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Photoreceptor Function in ROP
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of Angiogenesis in ROP
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Secondary Analysis of Data from G-ROP Study
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Investigation of regulatory cascades governing development of the outflow structures of the eye
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Role of Beta3-Glucosyltransferase in a non-canonical quality control pathway
Institution: Information not provided - US

OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent

Baden-Württemberg
TÜBINGEN
TreatOPON : Präklinische Therapienentwicklung für OPA1-assoziierte Optische Neuropathien (Koordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Bayern
REGENSBURG
Entwicklung neuer aktiver Substanzen zur Korrektur von mutanter BEST1 Chloridleitfähigkeit - Etablierung einer zielgerichteten Therapie für die Bestsche vitelliforme Makuladystrophie
Universitätsklinikum Regensburg
Zentrum für Humangenetik Regensburg

Niedersachsen
OLDENBURG
TreatOPON : Präklinische Therapienentwicklung für OPA1-assoziierte Optische Neuropathien (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

Nordrhein-Westfalen
BERGISCH GLADBACH
AspecTNMO - Messung autoantigenspezifischer T-Zellen als neue diagnostische Sensoren und therapeutische Ziele bei Neuromyelitis optica
Miltenyi Biotec GmbH

Schleswig-Holstein
KIEL
AspecTNMO - Messung autoantigenspezifischer T-Zellen als neue diagnostische Sensoren und therapeutische Ziele bei Neuromyelitis optica
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Institut für Immunologie

AUVERGNE-RHONE-ALPES
AUBIÈRE
Disease-causing mutations in human mitochondrial DNA replication factors: A single-molecule study
Laboratoire de Physique de Clermont
Health, Environment and Energy

AUVERGNE-RHONE-ALPES
BRON
ASPECT-NMO: Measuring autoantigen-specific T cells as new diagnostic sensors and therapeutic targets in neuromyelitis optica - FR
CHU de Lyon HCL - GH Est
Service de neurologie - sclérose en plaques, pathologies de la myéline et neuro-inflammation

CAMPANIA
NAPOLI
Modulation of miR181a/b as a new therapeutic approach for Leber hereditary optic neuropathy (LHON)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

EMILIA ROMAGNA
PARMA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Parma
Dipartimento di Scienze Chimiche, della Vita e della Sostenibilità Ambientale

VENETO
PADOVA
Pre-clinical identification of drugs targeting POLG disorders by using a Zebrafish/Yeast trans-species approach (ZIPPY)
Università degli Studi di Padova - DiBio
Dipartimento di Biologia

VENETO
PADOVA
A therapeutic approach for rare genodermatoses caused by aberrant connexin hemichannels
Venetian Institute of Molecular Medicine
Centro Interdipartimentale per lo Studio dei Segnali Cellulari

Østlandet
NESODDTANGEN
Levels of activity and independence: a study of the interface of current health policy discourse and subjective realities
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

TIROL
INNSBRUCK
Epitop Spezifität von MOG Antikörpern
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

KOREA, REPUBLIC OF
SEOUL
Establishment and management of clinical network for multiple sclerosis and neuromyelitis optica
Samsung Medical Center

Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)

Region Örebro län
ÖREBRO
Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro Universitetssjukhus
Örebro University Hospital

Andalucía
CÓRDOBA
Development of Adipose Tissue-Based Therapies for Treatment of Corneal Endothelial Dysfunction
IMIBIC - Instituto Maimónides de Investigación Biomédica de Córdoba
Fundación para la Investigación Biomédica de Córdoba

Cataluña
BARCELONA
Study of the axonal damage and demyelination in Acute Optic Neuritis
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Institut d'Investigacions Biomèdiques August Pi i Sunyer

Cataluña
BARCELONA
Preclinical efficacy studies to expand the use of deoxyribonucleosides as a treatment for mitochondrial DNA depletion and multiple deletions syndromes (MDDS). Extension to unexplored genetic causes
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

Madrid
MADRID
Dominant optic atrophy: iPSCs as a model of disease, diagnostic improvement and therapeutic approach
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Washington
ADDRESS: NOT PROVIDED - US
Color vision in inherited retinal degenerations
Institution: Information not provided - US

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

Washington
ADDRESS: NOT PROVIDED - US
Ocular gene therapy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mito-Targeted AAV to treat Leber Hereditary Optic Neuropathy caused by ND4 mutations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
In Vivo Modeling of Mitochondrial Complex I Deficiency in Retinal Ganglion Cells
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of Vision Loss in X-Linked Juvenile Retinoschisis
Institution: Information not provided - US

West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

OOST-VLAANDEREN
GENT
GET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - BE
Laboratory of General Biochemistry and Physical Pharmacy - Ghent University
Laboratory for General Biochemistry and Physical Pharmacy - Ghent University

Baden-Württemberg
STUTTGART
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
Klinikum Stuttgart - Katharinenhospital
Augenklinik

Baden-Württemberg
TÜBINGEN
StarT: Europäisches Trainingsnetzwerk zur Diagnose, zum Verständnis und zur Behandlung der Stargard-Krankheit, einer häufig auftretenden erblichen Erblindung
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

Baden-Württemberg
TÜBINGEN
Verlauf der Progression bei USH2A-abhängiger Netzhautdegeneration
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

Baden-Württemberg
TÜBINGEN
Klinische Charakterisierung der PDE6A-bedingten Retinitis Pigmentosa in Vorbereitung auf eine Gentherapie-Studie: Eine Beobachtungsstudie
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

Baden-Württemberg
TÜBINGEN
Korrektur einer häufigen CRB1 Mutation mittels RNA-Baseneditierung - Entwicklung einer neuartigen Therapie der retinalen Degeneration (SPP 2127: Gen- und Zellbasierte Therapien für die Behandlung neuroretinaler Degeneration)
IFIB - Interfakultäres Institut für Biochemie
Interfakultäres Institut für Biochemie

Bayern
WÜRZBURG
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
Universitätsklinikum Würzburg
ZESE - Zentrum für Seltene Erkrankungen (ZSE) - Referenzzentrum Nordbayern

Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

Hessen
FRANKFURT AM MAIN
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
Universitätsklinikum Frankfurt
FRZSE - Frankfurter Referenzzentrum für Seltene Erkrankungen

Hessen
GIEßEN
Natürliche Verlaufsstudie einer CEP290-bedingten Netzhautdegeneration
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

Hessen
GIEßEN
GET-READY: Genetische Therapie für EYS- und USH2A assoziierte Retinadegeneration
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

Niedersachsen
HANNOVER
TreatRP: TreatRB - Übersetzung von cGMP-Analoga in eine Behandlung für Retinitis pigmentosa - Protokoll für klinische Studien
Medizinische Hochschule Hannover
Medizinische Hochschule Hannover (MHH)

Nordrhein-Westfalen
BONN
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
Universitäts-Augenklinik Bonn

Nordrhein-Westfalen
KÖLN
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
Universitätsklinikum Köln
Zentrum für Augenheilkunde

Nordrhein-Westfalen
SIEGBURG
TES-RP: Evaluation der Wirksamkeit einer transkornealen Elektrostimulation bei Patienten mit Retinitis Pigmentosa - eine multizentrische, prospektive, randomisierte, kontrollierte und doppel-blinde Studie im Auftrag des Gemeinsamen Bundesausschusses
MVZ Siegburg
AugenZentrum Siegburg Professor Dr. med. Ulrich Kellner

Rheinland-Pfalz
MAINZ
Charakterisierung des retinalen Phänotyps und präklinische Evaluation von AAV-vermittelter Gentherapie im transgenen USH1C Schwein
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

Rheinland-Pfalz
MAINZ
VLGR1 Signaling an Fokal-Adhäsions und die ICD-Freisetzung als einen nicht-kanonischen Signalweg von aGPCRs (FOR 2149: Aufklärung des Signalverhaltens von Adhäsions-GPCR)
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

Finland
JYVÄSKYLÄ
Psychological well-being in families having a child with a Usher syndrome
University of Jyväskylä
Department of Psychology

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Cartography and genetic identification of genes involved in child motor neuropathies
Institution: Information not provided - FR

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

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

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

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

ILE-DE-FRANCE
PARIS
Genetic deciphering of new syndrome associating early and severe retinal dystrophy and sensorineural hearing loss
Hôpital Necker-Enfants Malades
Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

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

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

ILE-DE-FRANCE
PARIS
Non viral gene editing for autosomal dominant retinitis pigmentosa
Institut de la Vision
Centre de Recherche Institut de la Vision

OCCITANIE
MONTPELLIER
Genetics of autosomal recessive retinitis pigmentosa and of macular dystrophies
CHU de Montpellier - Hôpital Saint-Eloi
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

OCCITANIE
MONTPELLIER
Dominant autosomic retinitis pigmentosa: prevalence of known genes and identification of new ones
CHU de Montpellier - Hôpital Saint-Eloi
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

OCCITANIE
MONTPELLIER
GET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - FR
CHU de Montpellier - Hôpital Saint-Eloi
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

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

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

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

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

CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

CAMPANIA
NAPOLI
A mutation-independent genome editing approach for ABCA4 gene correction in photoreceptors
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

CAMPANIA
NAPOLI
GET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - IT
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

EMILIA ROMAGNA
MODENA
Pigment Epithelium-derived Factor (PEDF) peptides as therapeutic agents for inherited retinal degeneration
Università degli Studi di Modena e Reggio Emilia
Laboratorio Eye Diseases

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

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 Neuroscienze

TOSCANA
FIRENZE
TreatRP: Translating cGMP analogues into a treatment for retinitis pigmentosa - IT
Azienda Ospedaliero Universitaria Careggi
S.O.D. Oculistica

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

VENETO
PADOVA
Optic atrophy 1 dependent signals in retinal ganglion cells: from identification to a therapy for autosomal dominant optic atrophy
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

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

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

Ontario
TORONTO
Molecular regulation of progenitor cell behaviour in the developing retina
University of Toronto
Cell & Systems Biology

Gelderland
NIJMEGEN
Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

TIROL
INNSBRUCK
Mobility_APP - Mobility in Atypical Parkinsonism: a Randomized Trial of Physiotherapy - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

TIROL
INNSBRUCK
Pharmakotherapeutisches Potenzial v. Cav1.4 L-Typ Ca-Kanälen
Universität Innsbruck
Institut für Pharmazie

WIEN
ADDRESS: NOT PROVIDED - AT
A Post-Authorization, Multicenter, Multinational, Longitudinal, Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec - AT
Institution: Information not provided - AT

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

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

KOREA, REPUBLIC OF
KOREA
Integrative study of epigenetic variations in rare diseases
Korea National Institute of Health

KOREA, REPUBLIC OF
SEOUL
Study on the effects of mutations under inherited retinal disease in Korean
Yonsei University College of Medicine

Region Västra Götaland
GÖTEBORG
TreatRP: Translating cGMP analogues into a treatment for retinitis pigmentosa - SE
Research Institutes of Sweden (RISE)
Research Institutes of Sweden

Suisse Alémanique
BASEL
Therapeutic RNA base editing for Stargardt disease
Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Suisse Alémanique
BASEL
Single-cell genomic reconstruction of retina developmental disorders
Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Suisse Alémanique
BASEL
GET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - CH
Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Andalucía
SEVILLA
Efficacy study to validate the pan-therapeutic effect of the new drug LIM21 in retinal organoids obtained from retinitis pigmentosa patients (3D-SIRT-Retina)
Fundación Progreso y Salud

Cataluña
BARCELONA
Gene therapy for Retinitis Pigmentosa caused by mutations in CERKL: preclinical testing using adeno-associated viruses (AAVs) in the CerklKD/KO mouse model
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética, Biología y Estadística

Cataluña
BARCELONA
Family diagnosis of Primary Ciliary Dyskinesia and Retinitis Pigmentosa due to variants in the RPGR gene
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en crecimiento y desarrollo

Comunidad Valenciana
VALENCIA
Patient specific disease models as a tool toward effective therapies for hereditary retinal dystrophies
Centro de Investigación Príncipe Felipe (CIPF)
CIPF: Centro de Investigación Príncipe Felipe

Comunidad Valenciana
VALENCIA
Retinal Dystrophies. Usher syndrome: genomic, cellular, functional and bioinformatic approaches to accelerate their diagnosis and treatment and to measure their impact
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

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

California
BERKELEY
Function of ciliary disease protein retinitis pigmentosa gtpase regulator (rpgr)
University Of California Berkeley
Ophthalmology

California
BERKELEY
Humoral Immunity, Astrocyte Injury, and Demyelination in Neuromyelitis Optica
University Of California Berkeley
Ophthalmology

California
SAN FRANCISCO
Cortical structure and function in blindness and following restored vision
University Of California, San Francisco
Neurology

Maryland
BETHESDA
Drug repurposing screening for rare and neglected diseases
National Center for Advancing Translational Sciences (NCATS-NIH)
Therapeutic Development Branch

Texas
HOUSTON
Molecular basis of human visual system disorders
Baylor College Of Medicine
Genetics

Washington
ADDRESS: NOT PROVIDED - US
Preclinical innovation
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Drug discovery and mechanistic study of p23h rhodopsin associated retinitis pigmentosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Compacted dna nanoparticles for ocular therapy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The role of complement in recessive stargardt disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Quantitative fundus autofluorescence in retinal disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Large animal therapy studies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cone rescue in retinitis pigmentosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Development of allele independent gene therapy strategies for autosomal dominant retinitis pigmentsa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Investigating dendritic cell autophagy as a viral targeted determinant of herpetic stromal keratitis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of cd8+ t cell dynamics in recurrent ocular herpetic disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanistic studies on regenerative medicine approaches to childhood blindness
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Novel imaging of rod oxidative stress in retinal disease and treatment in vivo
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting retinitis pigmentosa using nanoparticle-mediated delivery of genomic dna
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Role of microglia in retinitis pigementosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Use of systems pharmacology to prevent rod and cone photoreceptor degeneration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Disease mechanism and therapies for retinal degeneration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Human rhodopsin-adrp studies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Interventional approaches for restoring vision
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Large animal (dog) experimental support module
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of early eye development
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The focal electro-oculogram in macular disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Retinal gene therapy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Preclinical safety studies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Retinal aging and inherited neurodegenerative diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Reciprocal signaling in synaptogenesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A Survey study of Retinitis Pigmentosa (RP) clinical measures and repeatability testing of potential outcome measures
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Disease modeling and CRISPR/Cas9-mediated rescue of dominant Leber congenital amaurosis retinal phenotypes
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Epigenetic modifiers as therapeutic agents to combat retinal degeneration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Protein-unfolding Chaperones for the Treatment of Blindness
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Gene Silencing and Gene Editing in Phototransduction
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
DEVELOPMENT OF AAV-CRISPR/CAS9-BASED THERAPIES FOR CONE ROD DYSTROPHY
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Essential Role of Very Long Chain Fatty Acids in Retinal Function
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Structural basis for chaperone-dependent folding of beta-propeller proteins essential for vision
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Translational Gene Therapy for CNGB1 Retinitis Pigmentosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Exploring the link between mutant RNA expression and trinucleotide repeat disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Photoreceptor Regeneration in a Murine Model of Leber Congenital Amaurosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
CRISPR-Cas9 based treatment of dominant retinal degeneration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Membrane targeting calcium sensors in vision
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of Herpetic Keratitis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Reprogramming the metabolome to overcome the genetic heterogeneity in retinitis pigmentosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Stargardt disease with low lipofuscin
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Integrated clinical, genetic and functional analysis of the ABCA4 locus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Plasmonic Retinal Prosthesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Aquaporin-4 in NMO Optic Neuritis: Pathogenesis and New Therapies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Retinal Disease Promoted by Iron-Induced Bisretinoid Oxidation
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting the Unfolded Protein Response to Treat Retinitis Pigmentosa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A novel hypotonic gelling eye drop for topical treatment of retinal degenerative diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Using functional homology of RP1 isoforms to guide alternative therapeutic strategies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms that regulate RPE65 isomerase in normal and blindness-associated RPE
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pharmacological studies of rhodopsin metabolism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms Behind Retinal Photoreceptor Cells Outer Segment Biogenesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Antisense therapy for the treatment of visual loss in Usher syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Stimulating Retina Regeneration from Muller Cells in Progressive Retinal Degenerations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Structural basis of BBSome-mediated ciliary exit
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pluripotent Stem Cell Derived 3D Retinas for Studies of Early Onset Retinal Degeneration
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
A new molecular therapy against ocular herpes
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Blood outer retina barrier regulation
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Ciliary pcoket matrix in photoreceptor health
Institution: Information not provided - US

Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences

Baden-Württemberg
TÜBINGEN
Progressionsrate der PCDH15-bedingten Netzhautdegeneration beim Usher-Syndrom 1F (RUSH1F) - DE
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

Bayern
REGENSBURG
Allel-spezifische Eliminierung pathogener Bestrophin-1 Transkripte mittels gezielter CRISPR/Cas9-vermittelter Genomeditierung
Universitätsklinikum Regensburg
Zentrum für Humangenetik Regensburg

Washington
ADDRESS: NOT PROVIDED - US
Natural history and genetic studies of usher syndrome
Institution: Information not provided - US

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
Multizentrische Forschungsprojekte
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
- Department für Augenheilkunde Tübingen
- Forschungsinstitut für Augenheilkunde
- Institution: Information not provided - NL
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
- Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- CLCC Institut Curie
- Service de Génétique
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Universitätsklinikum Aachen
- Institut für Humangenetik
- CHU d'Angers
- Service de génétique
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- Centre hospitalier universitaire Sainte-Justine
- Génétique médicale
- Göteborgs Universitet
- Institute of Neuroscience and Physiology
- Linköpings Universitet
- Linköping University
- Institution: Information not provided - UK
- St Mary's Hospital
- Manchester Cente for Genomic Medicine
- Department für Augenheilkunde Tübingen
- Molekulargenetisches Labor
- Universitätsmedizin Mainz
- Augenklinik und Poliklinik
- Universitätsklinikum Schleswig-Holstein - Campus Kiel
- Institut für Immunologie
- CHU de Lyon HCL - GH Est
- Service de neurologie - sclérose en plaques, pathologies de la myéline et neuro-inflammation
- CHU de Lyon HCL - GH Est
- Service de neurologie - sclérose en plaques, pathologies de la myéline et neuro-inflammation
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Institut für Zoologie der Universität Mainz
- Institut für Zoologie - Abt. I - AG Wolfrum
- 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 de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Université Pierre et Marie Curie - Paris 6
- Département Traitement des Informations Visuelles
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Università degli Studi di Modena e Reggio Emilia
- Laboratorio Eye Diseases
- Stichting Katholieke Universiteit

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
EuroVisionNet: Visual Impairment and Degeneration: A Road-map for Vision Research within Europe (TERMINATED)

Baden-Württemberg
TÜBINGEN
DRUGSFORD: Preclinical development of drugs and drug delivery technology for the treatment of inherited photoreceptor degeneration

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

Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies

OOST-VLAANDEREN
GENT
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models

Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

ILE-DE-FRANCE
PARIS
European clinical research network on opsoclonus-myoclonus syndrome in children

ILE-DE-FRANCE
PARIS
EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)

Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema

Nordrhein-Westfalen
AACHEN
ENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain

PAYS DE LA LOIRE
ANGERS
ERMION: European research project on Medelian inherited optic neuropathy

CAMPANIA
NAPOLI
AAVEYE: gene therapy for inherited severe photoreceptor diseases

LOMBARDIA
PAVIA
GIMS: Interdisciplinary Team for Marfan Syndrome

Québec
MONTRÉAL
RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment

Region Västra Götaland
GÖTEBORG
PREVENTROP: New approach to treatment of the blinding disease Retinopathy of Prematurity (ROP)

Region Östergötland
LINKÖPING
AAK-INSIGHT: Aniridia - Novel therapeutic tools to treat or prevent progressive cornea opacification

Greater Manchester
ADDRESS: NOT PROVIDED - UK
BRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases

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)

Baden-Württemberg
TÜBINGEN
TreatOPON : Präklinische Therapienentwicklung für OPA1-assoziierte Optische Neuropathien

Rheinland-Pfalz
MAINZ
STRONG: Europäisches Konsortium für die topische Therapie des neovaskulären Glaukoms

Schleswig-Holstein
KIEL
ASPECT-NMO: Measuring autoantigen-specific T cells as new diagnostic sensors and therapeutic targets in neuromyelitis optica

AUVERGNE-RHONE-ALPES
BRON
Eugène Devic European Network (EDEN): establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders

AUVERGNE-RHONE-ALPES
BRON
EDEN: Eugène Devic European Network: establishment and use of an European database and biological bank for research and treatment in acute neuromyelitis optica and related disorders

Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening

Rheinland-Pfalz
MAINZ
Eur-USH: European young investigators network for Usher syndrome

ILE-DE-FRANCE
PARIS
RHORCOD: comprehensive analysis of rod-cone photoreceptor degeneration associated with Rhodopsin gene mutations

ILE-DE-FRANCE
PARIS
TREATRUSH: fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment

ILE-DE-FRANCE
PARIS
RDCVF: rod-derived cone viability factor (TERMINATED)

ILE-DE-FRANCE
PARIS
OPTOREMODE: Retinitis Pigmentosa diagnosis and therapy: retinal remodeling and optogenetic reactivation of degenerated retina

CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes

EMILIA ROMAGNA
MODENA
TreatRP: Translating cGMP analogues into a treatment for retinitis pigmentosa

Gelderland
NIJMEGEN