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Funded by an IRDiRC member = Member of a ERN =

Research projects

IRELAND

County Dublin
DUBLIN

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

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

ILE-DE-FRANCE
PARIS

Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberDeveloping and studying the effects of innovative therapies for rare inherited retinal disease using human retinal models derived from patient iPS cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department

IRELAND

County Dublin
DUBLIN

Target 5000: A Study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics

CANADA

Alberta
EDMONTON

FINLAND

Finland
HELSINKI

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

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Department für Augenheilkunde Tübingen
Forschungsinstitut für Augenheilkunde

GERMANY

Bremen
BREMEN

Funded by an IRDiRC memberTargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Biolog Life Science Institute GmbH & Co. KG
Biolog Life Science Institute

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberBiomedical 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

SWEDEN

Region Västra Götaland
GÖTEBORG

Molecular defence against retinopathy of prematurity: screening, prevention and treatment
The Queen Silvia Children's Hospital - Sahlgrenska
Department of clinical neurosciences

UNITED STATES

California
BERKELEY

Funded by an IRDiRC memberRole of nrf2 in retinal vascularization and rop
University Of California Berkeley
Ophthalmology

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of retinal disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic role of epac1 signaling in retinopathy of prematurity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRetinal neurovascular patterning in preterm infants
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInherited ocular diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeonatal translational
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOcular nsaids/caffeine potentiation in oxygen-induced retinopathy
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
EVRY

Funded by an IRDiRC memberStem 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

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

SPAIN

Galicia
VIGO

Funded by an IRDiRC memberMolecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

SWEDEN

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

West Midlands
BIRMINGHAM

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberWnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US

AUSTRIA

TIROL
INNSBRUCK

Pharmacotherapeutic potential Cav1.4 calcium channels
Universität Innsbruck
Institut für Pharmazie

CANADA

Ontario
TORONTO

FINLAND

Finland
JYVÄSKYLÄ

FRANCE

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

FRANCE

ILE-DE-FRANCE
EVRY

Funded by an IRDiRC memberRetinal tissue engineering from human pluripotent stem cells for the treatment of retinal dystrophies
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
PARIS

Animal model creation of Stargardt disease by interfering RNA
Hôpital Necker-Enfants Malades
Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

FRANCE

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

FRANCE

ILE-DE-FRANCE
PARIS

Hereditary dystrophies of retina: physiopathologic and clinic research
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

FRANCE

ILE-DE-FRANCE
PARIS

Hereditary dystrophies of retina: pharmacological research and new therapeutics development (cell and gene therapies)
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC membereyePS: Modeling and treatment of retinal dystophies with iPS cells - FR
Institut de la Vision
Centre de Recherche Institut de la Vision

FRANCE

OCCITANIE
MONTPELLIER

Genetics of autosomal recessive retinitis pigmentosa and of macular dystrophies
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

PAYS DE LA LOIRE
NANTES

FRANCE

PAYS DE LA LOIRE
NANTES

Evaluation of the immune response in Briards dogs RPE65 -/- treated with gene therapy
CHU de Nantes - Hôtel Dieu
Vecteurs viraux et transfert de genes in vivo

GERMANY

Baden-Württemberg
TÜBINGEN

Genetics and pathophysiology of autosomal recessive achromatopsia
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANY

Baden-Württemberg
TÜBINGEN

GERMANY

Baden-Württemberg
TÜBINGEN

GERMANY

Baden-Württemberg
TÜBINGEN

GERMANY

Baden-Württemberg
TÜBINGEN

Rate of Progression in USH2A Related Retinal Degeneration
Department für Augenheilkunde Tübingen
Universitäts-Augenklinik

GERMANY

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

GERMANY

Hessen
GIEßEN

Natural History Study of CEP290-Related Retinal Degeneration
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

GERMANY

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

GERMANY

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

GERMANY

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

IRELAND

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberUnderstanding molecular basis for Inherited Retinal Diseases (IRDs)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberDevelopment and application of optoneural prosthetic devices as a therapeutic approach for Retinitis pigmentosa
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Dipartimento di Medicina Sperimentale

ITALY

TOSCANA
PISA

ITALY

VENETO
VERONA

Funded by an IRDiRC memberCone 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

JAPAN
MIYAGI

Funded by an IRDiRC memberIntensive 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

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
KOREA

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Gelderland
NIJMEGEN

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

NETHERLANDS

Gelderland
NIJMEGEN

Identification of the genetic causes of inherited retinal dystrophies
Radboudumc - Radboud universitair medisch centrum
Afdeling Oogheelkunde

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberA retinal origin of congenital nystagmus
Nederlands Herseninstituut

SPAIN

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

SPAIN

Cataluña
BARCELONA

Mitochondrial and metabolic dynamics in a retinitis pigmentosa model. A new therapeutic approach?
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética, Biología y Estadística

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberDevelopment of anti-inflammatory nanotherapies for retinitis pigmentosa
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Madrid
MADRID

Lost heritability in sRP and LCA cases. Search for CNVs and new variants
Fundación Jiménez Díaz
Área de Genética y Genómica

SWEDEN

Region Skåne
LUND

SWEDEN

Region Stockholm
STOCKHOLM

Genetic and molecular mechanisms in familial visual impairment
Karolinska Institutet - Solna
Department of molecular medicine and surgery

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Oxfordshire
HEADINGTON

Funded by an IRDiRC memberDevelopment of novel tests to assess visual function in patients with inherited retinal degeneration.
John Radcliffe Hospital, University of Oxford
Nuffield Department of Clinical Neurosciences

UNITED STATES

California
BERKELEY

UNITED STATES

California
SAN FRANCISCO

Funded by an IRDiRC memberCortical structure and function in blindness and following restored vision
University Of California, San Francisco
Neurology

UNITED STATES

South Carolina
COLUMBIA

Rate of Progression in USH2A Related Retinal Degeneration
Foundation Fighting Blindness
Foundation Fighting Blindness USA

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPreclinical innovation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of complement in recessive stargardt disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberLarge animal therapy studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCilium-associated structures in rod cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCone rescue in retinitis pigmentosa
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanism of death of bystander retinal cells during mcmv infection
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberImaging the functional biomarker of photoreceptors
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberModulation of lipid bisretinoids clearance with beta-cyclodextrins
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNoninvasive assessment of pathophysiology in retinitis pigmentosa
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRole of microglia in retinitis pigementosa
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of arap1 in retinal photoreceptor homeostasis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberColor vision in inherited retinal degenerations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDisease mechanism and therapies for retinal degeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHuman rhodopsin-adrp studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInterventional approaches for restoring vision
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberLarge animal (dog) experimental support module
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of early eye development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe focal electro-oculogram in macular disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRetinal gene therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPreclinical safety studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRetinal aging and inherited neurodegenerative diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberReciprocal signaling in synaptogenesis
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberModeling 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

GERMANY

Bayern
REGENSBURG

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutic genome editing to treat best disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNatural history and genetic studies of usher syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects