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Financiado por un miembro del IRDiRC = Miembro de una ERN =
Proyectos de investigación

KOREA, REPUBLIC OF
SEOUL
Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

Comunidad Valenciana
VALENCIA
Caracterización genómica exhaustiva de los síndromes hereditarios mieloides
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

Madrid
MADRID
Estudios preclínicos para demostrar la eficacia y seguridad de una terapia génica ex vivo en Diamond Blackfan Anemia con vectores lentivirales
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

Washington
ADDRESS: NOT PROVIDED - US
Phenotypic assay design and development for rare and neglected diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Hematopoietic stem cell biology
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Red cell biology
Institution: Information not provided - US

ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

OCCITANIE
TOULOUSE
RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease
Université Paul Sabatier
Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099

Baden-Württemberg
HEIDELBERG
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

Niedersachsen
HANNOVER
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

ILE-DE-FRANCE
FONTENAY-AUX-ROSES CEDEX
Identification by high-throughput functional screens of Fanconi disease modifying genes
DRF/Institut François-Jacob CEA Paris-Saclay
Laboratoire d'Exploration Fonctionnelle des Génomes - LEFG

EMILIA ROMAGNA
MELDOLA
Integrated Multiomics and Multilevel Characterization of Haematological Disorders and Malignancies
IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori
IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica

Madrid
MADRID
Evaluación de la utilización del exoma fetal como herramienta para la identificación de la base genética de las alteraciones ecográficas mayores
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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

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

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
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
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Ontario
TORONTO
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
Proyectos de investigación multicéntricos
- CHU Paris-Sud - Hôpital de Bicêtre
- Service Hématologie Biologique
- Amsterdam UMC, locatie AMC
- Laboratorium Genetische Metabole Ziekten
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institution: Information not provided - ES
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
- 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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Réseau sur les maladies génétiques rares de l'érythropoïèse et de la membrane érythrocytaire

Noord-Holland
AMSTERDAM
EuroDBA: European Diamond-Blackfan Anemia Consortium

Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

Madrid
ADDRESS: NOT PROVIDED - ES
E-Enerca: New E-Health Services For The European Reference Network On Rare Anaemias

ILE-DE-FRANCE
ORSAY
CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

LAZIO
ROMA