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Projetos de investigação encerrados = Financiado por um membro do IRDiRC =
Estudo envolvendo membros das ERN em pelo menos dois Estados-Membros =
Projetos de investigação

ALEMANHA
Sachsen
DRESDEN
Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

FRANCA
ILE-DE-FRANCE
PARIS
Basophils in Lupus: Mechanisms and Therapy.
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF
Dermatologie

FRANCA
ILE-DE-FRANCE
PARIS
Rho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163

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

ESPANHA
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

ESPANHA
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica

ESPANHA
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

ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

ESPANHA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

ESPANHA
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

ESPANHA
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 Neurogenética y Medicina Molecular

ESPANHA
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

ESPANHA
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

ESPANHA
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 Enfermedades raras, mitocondriales y neuromusculares
Projetos de investigação multicêntricos
- ZMBE - Zentrum für Molekularbiologie der Entzündung
- EUSCLE e.V. Sekretariat
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare

ALEMANHA
Nordrhein-Westfalen
MÜNSTER
EUSCLE : European Society of Cutaneous Lupus Erythematosus

ITALIA
LAZIO
ROMA