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Research projects

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

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

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

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

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"

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"

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

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

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

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

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

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration. Department für Augenheilkunde Tübingen Forschungsinstitut für Augenheilkunde

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration. Biolog Life Science Institute GmbH & Co. KG Biolog Life Science Institute

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration. Universität Kassel Department of Biochemistry

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

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

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

Role of nrf2 in retinal vascularization and rop University Of California Berkeley Ophthalmology

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

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

Genetic modifiers of retinal disease Institution: Information not provided - US

Pathogenic role of epac1 signaling in retinopathy of prematurity Institution: Information not provided - US

Retinal neurovascular patterning in preterm infants Institution: Information not provided - US

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

Inherited ocular diseases Institution: Information not provided - US

National ophthalmic disease genotyping and phenotyping network - eyegene Institution: Information not provided - US

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

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

Neonatal translational Institution: Information not provided - US

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

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 - UZ Gent

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

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

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

Molecular mechanisms in ciliopathies Universidade de Vigo Grupo de Enfermedades raras

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

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

Wnt signaling-mediated control of blood-retinal barrier Institution: Information 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

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

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

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

Usherin oireyhtymää sairastavien ja heidän perheidensä psyykkinen jaksaminen University of Jyväskylä Department of Psychology

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

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

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

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

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

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

eyePS: Modeling and treatment of retinal dystophies with iPS cells - FR Institut de la Vision Centre de Recherche Institut de la Vision

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"

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"

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

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

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

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

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

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

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder (partner DE) Department für Augenheilkunde Tübingen Molekulargenetisches Labor

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

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

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

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

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

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

Inherited childhood sight loss: understanding visual cycle biology to develop treatments University College Dublin UCD Conway Institute of Biomolecular and Biomedical Research

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

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

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

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

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

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

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

Integrative study of epigenetic variations in rare diseases Korea National Institute of Health

Study on the effects of mutations under inherited retinal disease in Korean Yonsei University College of Medicine

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

Exploration of theraputic strategies for ocular disorders
Trinity College Dublin

Smurfit Institute of Genetics

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

Laboratoire de diagnostic génétique

Epidemiological study in hereditary dystrophies of retina
Institut de la Vision

Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

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

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"

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"

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

Department of Ophthalmology

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

Ophthalmology Research Department

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

Smurfit Institute of Genetics

Choroideremia, Expanding our Understanding, Exploring Treatments
University of Alberta

CHM

CRMCC (cerebroretinal microangiopathy with calcifications and cysts)
HUS - Helsinki University Hospital

New Children's Hospital

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Department für Augenheilkunde Tübingen

Forschungsinstitut für Augenheilkunde

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Biolog Life Science Institute GmbH & Co. KG

Biolog Life Science Institute

TargetRD: PKG and CNGC as targets for mutation-independent therapy for inherited retinal degeneration.
Universität Kassel

Department of Biochemistry

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

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

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

Department of clinical neurosciences

Role of nrf2 in retinal vascularization and rop
University Of California Berkeley

Ophthalmology

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

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

Genetic modifiers of retinal disease
Institution: Information not provided - US

Pathogenic role of epac1 signaling in retinopathy of prematurity
Institution: Information not provided - US

Retinal neurovascular patterning in preterm infants
Institution: Information not provided - US

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

Inherited ocular diseases
Institution: Information not provided - US

National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US

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

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

Neonatal translational
Institution: Information not provided - US

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

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 - UZ Gent

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

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

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes

AG Kinder- & Neuroophthalmologie

Molecular mechanisms in ciliopathies
Universidade de Vigo

Grupo de Enfermedades raras

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna

Department of Molecular Medicine and Surgery

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

Diabetes Unit

Wnt signaling-mediated control of blood-retinal barrier
Institution: Information 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

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

Pharmacotherapeutic potential Cav1.4 calcium channels
Universität Innsbruck

Institut für Pharmazie

Molecular regulation of progenitor cell behaviour in the developing retina
University of Toronto

Cell & Systems Biology

Usherin oireyhtymää sairastavien ja heidän perheidensä psyykkinen jaksaminen
University of Jyväskylä

Department of Psychology

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

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

Animal model creation of Stargardt disease by interfering RNA
Hôpital Necker-Enfants Malades

Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

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

Hereditary dystrophies of retina: physiopathologic and clinic research
Institut de la Vision

Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts

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

eyePS: Modeling and treatment of retinal dystophies with iPS cells - FR
Institut de la Vision

Centre de Recherche Institut de la Vision

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"

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"

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

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

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

Genetics and pathophysiology of autosomal recessive achromatopsia
Department für Augenheilkunde Tübingen

Molekulargenetisches Labor

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

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

European Training Network to Diagnose, Understand and Treat Stargardt Disease, a Frequent Inherited Blinding Disorder (partner DE)
Department für Augenheilkunde Tübingen

Molekulargenetisches Labor

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

Universitäts-Augenklinik

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

Natural History Study of CEP290-Related Retinal Degeneration
Augenklinik des UKGM am Standort Gießen

Klinik und Poliklinik für Augenheilkunde

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

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

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

Inherited childhood sight loss: understanding visual cycle biology to develop treatments
University College Dublin

UCD Conway Institute of Biomolecular and Biomedical Research

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

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

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

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

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

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

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

Integrative study of epigenetic variations in rare diseases
Korea National Institute of Health

Study on the effects of mutations under inherited retinal disease in Korean
Yonsei University College of Medicine

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

Afdeling Genetica

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

Afdeling Genetica

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

Afdeling Oogheelkunde

A retinal origin of congenital nystagmus
Nederlands Herseninstituut

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud

Área de bioinformática clínica