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234 Resultado(s)

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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

CANADA

Ontario
TORONTO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ALEMANHA

Baden-Württemberg
TÜBINGEN

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

ALEMANHA

Baden-Württemberg
TÜBINGEN

ALEMANHA

Baden-Württemberg
TÜBINGEN

ALEMANHA

Baden-Württemberg
ULM

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

BELGICA

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

ESPANHA

Andalucía
SEVILLA

Financiado por um membro do IRDiRCBiomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

FINLANDIA

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

CENTRE-VAL DE LOIRE
ORLÉANS

Financiado por um membro do IRDiRCFirst preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose

FRANCA

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LOMBARDIA
MILANO

ALEMANHA

Saarland
HOMBURG

Description of clinical variability of ocular and cutaneous phenotypes in albinism
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCAnimal models of ocular disease
Institution: Information not provided - US

FRANCA

GRAND-EST
STRASBOURG

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

FRANCA

ILE-DE-FRANCE
PARIS

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

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

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

FRANCA

OCCITANIE
MONTPELLIER

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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCDeveloping and studying the effects of innovative therapies for rare inherited retinal disease using human retinal models derived from patient iPS cells
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

IRLANDA

County Dublin
DUBLIN

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

IRLANDA

County Dublin
DUBLIN

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

IRLANDA

County Dublin
DUBLIN

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

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Hamburg
HAMBURG

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Nordrhein-Westfalen
AACHEN

ALEMANHA

Rheinland-Pfalz
MAINZ

TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie

ALEMANHA

Saarland
HOMBURG

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Financiado por um membro do IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (coordinator)
European Commission
DG Research - Directorate General for Research

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Financiado por um membro do IRDiRCENISNIP: European Network on Inherited Sensory Neuropathies and Insensitivity to Pain (partner DE)
European Commission
DG Research - Directorate General for Research

CANADA

Alberta
EDMONTON

ESPANHA

Andalucía
SEVILLA

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic modifiers of retinal disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInherited ocular diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe focal electro-oculogram in macular disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPre-clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical research of oral connective tissue program
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProtein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

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

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCRAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches

FRANCA

PAYS DE LA LOIRE
ANGERS

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Understanding the molecular mechanisms underlying familial dysautonomia
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

IRLANDA

County Dublin
DUBLIN

Financiado por um membro do IRDiRCBRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases - IE
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute

ITALIA

FRIULI VENEZIA GIULIA
TRIESTE

Financiado por um membro do IRDiRCDevelopment of Exon Specific U1 snRNA-based therapy for Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory

ITALIA

FRIULI VENEZIA GIULIA
TRIESTE

Financiado por um membro do IRDiRCA novel exon-specific U1 snRNA strategy to correct splicing in Familial Dysautonomia
International Centre For Genetic Engineering And Biotechnology - ICGEB
Human Molecular Genetics Laboratory

SUECIA

Region Stockholm
STOCKHOLM

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

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ALEMANHA

Niedersachsen
OLDENBURG

Financiado por um membro do IRDiRCTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

AUSTRIA

WIEN
WIEN

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCDeciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCWnt signaling-mediated control of blood-retinal barrier
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCColor vision in inherited retinal degenerations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOcular gene therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

ILE-DE-FRANCE
EVRY

Financiado por um membro do IRDiRCStem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCRole of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

REINO UNIDO

West Midlands
BIRMINGHAM

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

SUECIA

Region Stockholm
STOCKHOLM

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

ALEMANHA

Baden-Württemberg
TÜBINGEN

ALEMANHA

Baden-Württemberg
TÜBINGEN

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

ALEMANHA

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

ALEMANHA

Hessen
GIEßEN

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

ALEMANHA

Rheinland-Pfalz
MAINZ

Characterization of the retinal phenotype and pre-clinical evaluation of AAV mediated gene augmentation in the transgenic USH1C pig
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

ALEMANHA

Rheinland-Pfalz
MAINZ

VLGR1 signaling at focal adhesions and ICD release as a non-canonical signaling pathway of aGPCRs
Institut für Zoologie der Universität Mainz
Institut für Zoologie - Abt. I - AG Wolfrum

ALEMANHA

Sachsen
DRESDEN

EXOSC2 zebrafish model and exosom : analysis of EXOSC2 in the development of HK syndrome
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

AUSTRIA

TIROL
INNSBRUCK

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

AUSTRIA

TIROL
INNSBRUCK

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

CANADA

Ontario
TORONTO

ESPANHA

Cataluña
BARCELONA

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

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCDevelopment of anti-inflammatory nanotherapies for retinitis pigmentosa
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

ESPANHA

Madrid
MADRID

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

ESTADOS UNIDOS

California
BERKELEY

ESTADOS UNIDOS

California
SAN FRANCISCO

Financiado por um membro do IRDiRCCortical structure and function in blindness and following restored vision
University Of California, San Francisco
Neurology

ESTADOS UNIDOS

South Carolina
COLUMBIA

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPreclinical innovation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe role of complement in recessive stargardt disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCLarge animal therapy studies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCilium-associated structures in rod cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCone rescue in retinitis pigmentosa
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanism of death of bystander retinal cells during mcmv infection
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCImaging the functional biomarker of photoreceptors
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCModulation of lipid bisretinoids clearance with beta-cyclodextrins
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNoninvasive assessment of pathophysiology in retinitis pigmentosa
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRole of microglia in retinitis pigementosa
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe role of arap1 in retinal photoreceptor homeostasis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDisease mechanism and therapies for retinal degeneration
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHuman rhodopsin-adrp studies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInterventional approaches for restoring vision
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCLarge animal (dog) experimental support module
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular genetics of early eye development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRetinal gene therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPreclinical safety studies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRetinal aging and inherited neurodegenerative diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCReciprocal signaling in synaptogenesis
Institution: Information not provided - US

FINLANDIA

Finland
JYVÄSKYLÄ

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

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

GRAND-EST
STRASBOURG

Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

FRANCA

ILE-DE-FRANCE
EVRY

Financiado por um membro do IRDiRCRetinal tissue engineering from human pluripotent stem cells for the treatment of retinal dystrophies
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCA

ILE-DE-FRANCE
PARIS

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

FRANCA

ILE-DE-FRANCE
PARIS

Decoding the genetic of Leber congenital amaurosis and progression of the therapeutic approach by exon skipping of the major mutation of the CEP290 gene
Hôpital Necker-Enfants Malades
Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

FRANCA

ILE-DE-FRANCE
PARIS

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

FRANCA

ILE-DE-FRANCE
PARIS

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCeyePS: Modeling and treatment of retinal dystophies with iPS cells - FR
Institut de la Vision
Centre de Recherche Institut de la Vision

FRANCA

OCCITANIE
MONTPELLIER

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

FRANCA

OCCITANIE
MONTPELLIER

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

FRANCA

PAYS DE LA LOIRE
NANTES

FRANCA

PAYS DE LA LOIRE
NANTES

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

IRLANDA

County Dublin
DUBLIN

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

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCDesigning therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCUnderstanding molecular basis for Inherited Retinal Diseases (IRDs)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci

ITALIA

LIGURIA
GENOVA

Financiado por um membro do IRDiRCDevelopment and application of optoneural prosthetic devices as a therapeutic approach for Retinitis pigmentosa
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Dipartimento di Medicina Sperimentale

ITALIA

TOSCANA
PISA

ITALIA

VENETO
VERONA

Financiado por um membro do IRDiRCCone dystrophies and retinal degeneration from protein structures to biological networks. Toward the design of therapeutic molecules
Università degli Studi di Verona
Dipartimento di Neuroscienze, Biomedicina e Movimento

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCDevelopment and standardization of molecular pathological diagnosis for bullous keratopathy
Kyoto Prefectural University of Medicine
Department of Ophthalmology

JAPAO

JAPAN
MIYAGI

Financiado por um membro do IRDiRCIntensive 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

PAISES BAIXOS

Gelderland
NIJMEGEN

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

PAISES BAIXOS

Gelderland
NIJMEGEN

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

PAISES BAIXOS

Gelderland
NIJMEGEN

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Financiado por um membro do IRDiRCA retinal origin of congenital nystagmus
Nederlands Herseninstituut

REINO UNIDO

Greater London
LONDON

REINO UNIDO

Oxfordshire
HEADINGTON

Financiado por um membro do IRDiRCDevelopment of novel tests to assess visual function in patients with inherited retinal degeneration.
John Radcliffe Hospital, University of Oxford
Nuffield Department of Clinical Neurosciences

REINO UNIDO

Tayside
DUNDEE

SUECIA

Region Skåne
LUND

ALEMANHA

Bayern
REGENSBURG

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutic genome editing to treat best disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNatural history and genetic studies of usher syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCModeling the Usher Syndrome type I (USH1) retinopathy in pig: physiopathology and gene therapy
Institut Pasteur
Génétique et Physiologie de l'audition - Inserm U1120 Paris 6

Projetos de investigação multicêntricos