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Research projects
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
EVRY
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
GERMANY
Baden-Württemberg
FREIBURG
The role of nephronophthisis proteins in multiciliated cells
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory
UNITED STATES
South Dakota
SIOUX FALLS
The molecular regulators of kidney collecting duct differentiation and maintenance
Sanford Research
Surendran Lab
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity - FR
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
IRELAND
County Dublin
DUBLIN
Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre
IRELAND
County Dublin
DUBLIN
Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute
SPAIN
Cataluña
BARCELONA
Clinical, genetic and allelic heterogeneity of early-onset hereditary kidney diseases: novel molecular causes of congenital anomalies of the kidney and urinary tract
Fundació Puigvert
Laboratorio de Biología Molecular
SPAIN
Madrid
MADRID
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
SPAIN
Madrid
MADRID
Retinal Dystrophies: genomic, cellular, functional and bioinformatic approaches to accelerate their diagnosis and treatment and to measure their impact
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
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
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
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
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
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"
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : 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
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
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
GERMANY
Hessen
GIEßEN
Barrier free chromatic pupillometry in children from infancy on. A novel biomarker to quantify outer and inner retinal function in inherited retinal disorders as a measure of therapeutic benefit after gene therapy (SPP 2127: Gene and cell based therapies to counteract neuroretinal degeneration)
Augenklinik des UKGM am Standort Gießen
Klinik und Poliklinik für Augenheilkunde
IRELAND
County Dublin
DUBLIN
Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics
Multicentric Research projects
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Faculté de Médecine Lyon Est
- Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
- Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
ITALY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
NETHERLANDS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity
GERMANY
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES