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Projets de recherche
ROYAUME-UNI
Cambridgeshire
CAMBRIDGE
DAS: Defining the phenotype in Alstrom syndrome and related genetic and cell culture studies
Addenbrooke's Hospital
University of Cambridge Metabolic Research Laboratories
ROYAUME-UNI
Devon
TORQUAY
DAS: Defining the phenotype in Alstrom syndrome and related genetic and cell culture studies
Torbay Hospital (South Devon Healthcare NHS Foundation Trust)
Endocrinology Department
ROYAUME-UNI
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
ROYAUME-UNI
West Midlands
BIRMINGHAM
DAS: Defining the phenotype in Alstrom syndrome and related genetic and cell culture studies
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
SUEDE
Stockholms läns landsting
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
ESPAGNE
Cataluña
BARCELONA
Cystic and glomerular inherited kidney diseases: panel-based next-generation sequencing to improve diagnosis and exome sequencing to identify novel genes
Fundació Puigvert
Laboratorio de Biología Molecular
FRANCE
ILE-DE-FRANCE
EVRY
Thérapie par cellules souches pour l'essai de remplacement de l'épithélium rétinien dans les rétinopathies monogènes
GENOPOLE - Campus 1
I-STEM (Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques)
FRANCE
ILE-DE-FRANCE
PARIS
EURENOMICS: Consortium européen pour la recherche à haut débit dans les maladies rénales rares - FR
CHU Paris - Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire
ITALIE
ABRUZZO
SANTA MARIA IMBARO
EUCILIA: study of the ciliary protein interaction network to establish a hierarchy of temporal and spatial interactions of BBS, OFD1, and NPHP proteins (WP3)
Consorzio Mario Negri Sud
Dipartimento di Biologia Cellulare e Oncologia
ITALIE
CAMPANIA
NAPOLI
EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALIE
VENETO
ZELARINO
Retinis Pigmentosa: clinical and molecular diagnosis by next generation sequencing and development of innovative strategies for gene and cell therapy
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
PAYS-BAS
Gelderland
NIJMEGEN
An integrative approach to understand and antagonize ciliopathy phenotypes
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
BELGIQUE
ANTWERPEN
NIEL
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - BE
Multiplicom Inc.
BELGIQUE
OOST-VLAANDEREN
GENT
Cis-regulatory mapping of the RPE-expressed transcription factor OTX2
Center for Medical Genetics Gent
BELGIQUE
OOST-VLAANDEREN
GENT
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - BE
VIB headquarters
BELGIQUE
VLAAMS BRABANT
LEUVEN
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - BE
University Hospitals Leuven - Gasthuisberg
Pediatric Nephrology and Organ transplantation
BELGIQUE
WEST-VLAANDEREN
TEMSE
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - BE
CMAST bvba
CMAST
ESPAGNE
Andalucía
SEVILLA
Genomic approaches for rare conditions: Inherited Retinal Dystrophies as a model
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
ESPAGNE
Cataluña
BARCELONA
Design of a genetic diagnostic chip for retinal dystrophies
Universitat de Barcelona. Facultat de Biologia
Departamento de Genética
ESPAGNE
Madrid
MADRID
Genomics, preclinical and clinical studies as tools for personalized medicine in retinal dystrophies
Fundación Jiménez Díaz
Área de Genética y Genómica
FINLANDE
Finland
OULU
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - FI
University of Oulu
Biocenter Oulu
FRANCE
GRAND-EST
STRASBOURG
Validation du diagnostic moléculaire par séquençage haut débit ciblé des rétinopathies pigmentaires
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCE
ILE-DE-FRANCE
GENNEVILLIERS
Annonce diagnostique d'une pathologie fetale rénale sévère détectée pendant la grossesse
Université de Cergy-Pontoise
Ecole, Mutations, Apprentissages
FRANCE
ILE-DE-FRANCE
PARIS
Etude épidémiologique dans les dystrophies héréditaires de la rétine
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANCE
ILE-DE-FRANCE
PARIS
Etude des caractéristique génétique des dystrophies rétiniennes héréditaires par séquençage de nouvelle génération
Institut de la Vision
Département Génétique
FRANCE
OCCITANIE
MONTPELLIER
Thérapie génique de dystrophies rétiniennes sur modèles humains: différenciation de cellules iPS de patients en cellules rétiniennes
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
ITALIE
LOMBARDIA
RANICA
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - IT
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare
PAYS-BAS
Gelderland
NIJMEGEN
EUNEFRON: rare disorders of the collecting dust (WP5)
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
ROYAUME-UNI
Cambridgeshire
CAMBRIDGE
Active BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research
ROYAUME-UNI
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
ROYAUME-UNI
Devon
EXETER
Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology
ROYAUME-UNI
Devon
EXETER
The role and regulation of Hepatocyte Nuclear Factor-1 Beta in man
Royal Devon and Exeter Hospital - Wonford site
Department of Urology
ALLEMAGNE
Hessen
GIEßEN
Diagnosis and therapy of hereditary retinal diseases
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde
ITALIE
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica
ESPAGNE
Madrid
MADRID
An integrated analysis system to increase the rate of diagnosis of rare diseases using massive sequencing
Fundación Jiménez Díaz
Área de Genética y Genómica
SUISSE
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
Projets de recherche multicentriques
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
- Klinik Kinderheilkunde I - Nephrologisches Labor
- LVR-Klinikum Essen
- Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Cliniques Universitaires UCL Saint-Luc
- Laboratory of Nephrology
- Fundación Jiménez Díaz
- Servicio de Genética Clínica
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Department für Augenheilkunde Tübingen
- Forschungsinstitut für Augenheilkunde
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
ITALIE
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
PAYS-BAS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases
ALLEMAGNE
Nordrhein-Westfalen
ESSEN
NGFN plus: IG Molecular mechanism of adipositas -terminated
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
ESPAGNE
Madrid
MADRID
EsRetNet: Spanish Network of Reseach on Retinal Dystrophies
FRANCE
ILE-DE-FRANCE
PARIS
EVI-GENORET: génomique fonctionnelle de la rétine dans le cas sain et pathologique (TERMINE)
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
HOPE 2: Hereditary Retinal Disorders - From Patients Towards Therapies
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
ITALIE
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES