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Progetti di ricerca
FRANCIA
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
ITALIA
EMILIA ROMAGNA
MELDOLA
Integrazione multiomica e caratterizzazione multilivello dei disordini e delle neoplasie maligne ematologiche
IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori
IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori
AUSTRIA
STEIERMARK
GRAZ
CRISPR/Cas9 genome engineering to dissect MPN (myeloproliferative neoplasm) pathogenesis
Medizinische Universität Graz
Klinische Abteilung für Hämatologie
AUSTRIA
WIEN
WIEN
Genetic screening to identify suppressors of Diamond-Blackfan anemia
Vienna Biocenter
IMBA - Institute of Molecular Biotechnology
CANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
CANADA
Ontario
TORONTO
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
COREA DEL SUD
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
FRANCIA
ILE-DE-FRANCE
PARIS
Physiopathology of human myelofibrosis with myeloid metaplasia
CHU Paris Est - Hôpital Saint-Antoine
UF de cytogénétique onco-hématologique
FRANCIA
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
FRANCIA
ILE-DE-FRANCE
VILLEJUIF
Physiopathology of human myelofibrosis with myeloid metaplasia
GHU Paris-Sud - Hôpital Paul Brousse
Les cellules souches: de leurs niches à leurs applications thérapeutiques
FRANCIA
OCCITANIE
TOULOUSE
RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease
Université Paul Sabatier
Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099
GERMANIA
Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANIA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
GERMANIA
Baden-Württemberg
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
GERMANIA
Bayern
WÜRZBURG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik
GERMANIA
Hessen
LANGEN
Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
GERMANIA
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie
GIAPPONE
JAPAN
TOKYO
Development of the platform that contributes to improvement in diagnoses and elucidation ofpathophysiology ofintractable hematological diseases using omics analytics and artificial intelligence.
The Institute of Medical Science, The University of Tokyo
ITALIA
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LOMBARDIA
PAVIA
Un modello di midollo osseo basato sulla seta per predire la risposta individuale a farmaci vecchi e nuovi per aumentare la conta piastrinica nelle piastrinopenie ereditarie
Fondazione IRCCS Policlinico San Matteo
Clinica Medica III
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics
SPAGNA
Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
SPAGNA
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
Comunidad Valenciana
VALENCIA
Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
SPAGNA
Madrid
MADRID
Preclinical studies to demonstrate the efficacy and the safety of an ex vivo gene therapy approach in Diamond Blackfan Anemia with lentiviral vectors
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético
SPAGNA
Madrid
MADRID
Effects of the non-peptide agonist of the thrombopoietin receptor (Eltrombopag) in the hematopoiesis of patients with Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SPAGNA
Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética
SPAGNA
Murcia
EL PALMAR
Identification of new factors involved in the onset, progression, and complications of Philadelphia-negative chronic myeloproliferative neoplasia
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Hematología y Oncología Médica Clínico-Experimental
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Phenotypic assay design and development for rare and neglected diseases
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Hematopoietic stem cell biology
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Red cell biology
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
GIAPPONE
JAPAN
AKITA
Identification of diagnostic biomarkers for refractory/relapsing acquired pure red cell aplasia (PRCA) by next generation sequencing
Akita University Graduate School of Medicine
Department of General Internal Medicine and Clinical Laboratory Medicine
Progetti di ricerca multicentrici
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- Institution: Information not provided - ES
- CHU Paris-Sud - Hôpital de Bicêtre
- Service Hématologie Biologique
- Zentrum für Kinder- und Jugendmedizin Freiburg
- Klinik für Pädiatrische Hämatologie und Onkologie
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Epidemiologia Clinica
- Amsterdam UMC, locatie AMC
- Laboratorium Genetische Metabole Ziekten
GERMANIA
Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
SPAGNA
Madrid
ADDRESS: NOT PROVIDED - ES
E-Enerca: New E-Health Services For The European Reference Network On Rare Anaemias
FRANCIA
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Réseau sur les maladies génétiques rares de l'érythropoïèse et de la membrane érythrocytaire
GERMANIA
Baden-Württemberg
FREIBURG
EWOG-SAA 2010: Genetic and Immunological Characterization of Acquired Severe Aplastic Anemia (SAA) in Children and Adolescents
ITALIA
LOMBARDIA
PAVIA
EUMNET: European Myelofibrosis Network
PAESI BASSI
Noord-Holland
AMSTERDAM