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Projets terminés = 
Financé par un membre IRDiRC = 
Etude impliquant des membres ERN dans au moins deux états membres = 
Projets de recherche
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAGNE
Madrid
MADRID
Identification 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
SUEDE
Region Uppsala
UPPSALA
Studies on the etiology and therapy of monogenetic dermatoses affecting the skin barrier
Akademiska Sjukhuset
Department of Medical Sciences
FRANCE
ILE-DE-FRANCE
PARIS
RaDiCo-FARD : Cohorte nationale pour l'évaluation du fardeau des maladies rares de la peau
Institut National de la Santé et de la Recherche Médicale
NORVEGE
Østlandet
OSLO
When the child is born with a rare skin disorder: an exploring study
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser
NORVEGE
Østlandet
OSLO
A feasibility study to inform an RCT to evaluate an online psychosocial intervention for young people with apperarance-altering conditions (YP Face it): a Norwegian pilot
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser
BELGIQUE
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Mise au point d'une méthode d'analyse génétique par mendéliomes et génomes dans le diagnostic des génodermatoses et des maladies génétiques rares à expression cutanée
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
FRANCE
ILE-DE-FRANCE
PARIS
Rho GTPases et maladies cutanées rares
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
Projets de recherche multicentriques
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
ALLEMAGNE
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
ALLEMAGNE
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
FRANCE
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses
ITALIE
LAZIO
ROMA