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Funded by an IRDiRC member = Member of a ERN =

Research projects

BELGIUM

OOST-VLAANDEREN
GENT

Funded by an IRDiRC memberGET-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

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberGET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - FR
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

GERMANY

Baden-Württemberg
TÜBINGEN

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

GERMANY

Hessen
GIEßEN

Funded by an IRDiRC memberGET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease -DE
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberGET-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

SWITZERLAND

Suisse Alémanique
BASEL

Funded by an IRDiRC memberGET-READY: Genetic therapy for EYS- and USH2A-associated retinal disease - CH
Institute of Molecular and Clinical Ophthalmology Basel (IOB)

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

FINLAND

Finland
JYVÄSKYLÄ

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

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

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberRetinal 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

SWEDEN

Region Örebro län
ÖREBRO

Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro University Hospital
Department of Audiology/ Audiological Clinical Research Centre

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 memberRetinal aging and inherited neurodegenerative diseases
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

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberDIVERCIL: Understanding cilia and flagella diversity
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

FRANCE

GRAND-EST
STRASBOURG

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

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberSolving 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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPathophysiological mechanisms of microcephaly
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

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"

GERMANY

Schleswig-Holstein
LÜBECK

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberCRISPR/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

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberSOLVE-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

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberThe 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)

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

IRELAND

County Dublin
DUBLIN

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

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Multicentric Research projects