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Progetti di ricerca

PAESI BASSI

Utrecht
UTRECHT

Finanziato da un ente associato a IRDiRCCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

CANADA

Ontario
TORONTO

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

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCApoptoMDS: Hematopoietic stem cell Apoptosis in bone marrow failure and MyeloDysplastic Syndromes: Friend or foe? - DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

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

ITALIA

PUGLIA
BARI

DEEP - Valutazione del deferiprone nei pazienti pediatrici
Consorzio per Valutazioni Biologiche e Farmacologiche (CVBF)
Consorzio per Valutazioni Biologiche e Farmacologiche

PORTOGALLO

SUL
LISBOA

Hemoglobinopathies molecular research
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

SPAGNA

Cataluña
BADALONA

Towards the improvement of diagnosis and treatment in congenital dyserythropoietic anemias. (CoDysAn Project)
ICO Badalona - Hospital Germans Trias i Pujol
Servicio de Hematología Clínica

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCGenomic editing for treating hemoglobin diseases
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCIA

ILE-DE-FRANCE
PARIS

Non-invasive prenatal diagnosis of sickle cell anemia by next generation sequencing (NGS)
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire

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

Finanziato da un ente associato a IRDiRCGETH: Genome Editing approaches to reactivate gamma-globin for the Treatment of ß-Hemoglobinopathies
IMAGINE - Institut des Maladies Génétiques
Equipe "Chromatine et régulation des gènes au cours du développement"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCTIEBET: TGF-Beta Signaling And Ineffective Erythropoiesis Of Beta-Thalassemia - FR
IMAGINE - Institut des Maladies Génétiques
Laboratoire des mécanismes moléculaires des troubles hématologiques et implications thérapeutiques

FRANCIA

ILE-DE-FRANCE
PARIS

Collaborative biological research for childhood Evans syndrome (ES) and Autoimmune hemolytic anemia (AIHA)
Institut National de la Transfusion Sanguine (INTS)
Physiologie du globule rouge normal et pathologique

FRANCIA

ILE-DE-FRANCE
PARIS

Application of the digital PCR droplet (ddPCR) in the non-invasive prenatal diagnosis of fetal-maternal platelet incompatibility
Institut National de la Transfusion Sanguine (INTS)
Laboratoire d'immunologie plaquettaire

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

FRANCIA

OUTRE-MER
POINTE-À-PITRE

Finanziato da un ente associato a IRDiRCSickle cell disease, neurocognitive disorders and social participation
Université des Antilles et de la Guyane
Laboratoire ACTES (Adaptations au Climat Tropical, Exercice et Santé)

GERMANIA

Baden-Württemberg
FREIBURG

GERMANIA

Baden-Württemberg
FREIBURG

EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Baden-Württemberg
FREIBURG

EWOG-SAA 2010 Genetic and Immunological Characterization of Acquired Severe Aplastic Anemia (SAA) in Children and Adolescents
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Baden-Württemberg
FREIBURG

Molecular markers in Myeloproliferative Disorders: PRV-1, JAK2, EEC in patients with PV, ET and IMF
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Sektion Molekulare Hämatologie

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCGETHERTHALPLUS: Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models - DE (partner no 2)
Nationales Centrum für Tumorerkrankungen (NCT)
Nationales Centrum für Tumorerkrankungen (CCC) Heidelberg

GERMANIA

Baden-Württemberg
ULM

Genetic variation in DNA-Repair and carcinoma susceptibility
Universitätsklinikum Ulm
Institut für Humangenetik

GERMANIA

Baden-Württemberg
ULM

Prognostic impact of the JAK2 V617F mutation
Universitätsklinikum Ulm am Oberen Eselsberg
Klinik für Innere Medizin III

GERMANIA

Bayern
WÜRZBURG

Causes and consequences of genetic instability in humans
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

Mecklenburg-Vorpommern
GREIFSWALD

Mutational spectra and clinical manifestation in patients with congenital haemophilia
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik

GERMANIA

Niedersachsen
HANNOVER

Investigation of the pathophysiology of congenital amegakaryocytic thrombocytopenia
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANIA

Nordrhein-Westfalen
AACHEN

MPN Registry: Clinical MPN Registry
Universitätsklinikum Aachen
Klinik für Onkologie, Hämatologie und Stammzelltransplantation (Med. Klinik IV)

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

Finanziato da un ente associato a IRDiRCDevelopment of the platform that contributes to improvement in
Institution: Information not provided - JP

ITALIA

EMILIA ROMAGNA
FERRARA

Finanziato da un ente associato a IRDiRCModificatori dell'espressione di geni globinici per il trattamento terapeutico della beta-talassemia
Università degli Studi di Ferrara
Laboratorio di Biologia Molecolare dell'Emostasi e Trombosi

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
BRESCIA

Finanziato da un ente associato a IRDiRCNuovi approcci farmacologici per disordini genetici dell'epcidina
ASST Spedali Civili di Brescia
Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCStudio sulla sicurezza dei vettori
IRCCS Ospedale San Raffaele
Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCTerapia genica per la beta talassemia
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

SARDEGNA
MONSERRATO

Finanziato da un ente associato a IRDiRCValidazione del gene delta globinico umano quale target terapeutico per la beta talassemia e l'anemia falciforme
IRGB CNR - Istituto di Ricerca Genetica e Biomedica
Gruppo di Ricerca per la Talassemia

PAESI BASSI

Zuid-Holland
ROTTERDAM

PAESI BASSI

Zuid-Holland
ROTTERDAM

PORTOGALLO

SUL
LISBOA

Development and validation of vaso-occlusion early predictors in mendelian model of vascular disease
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

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

Finanziato da un ente associato a IRDiRCEpigenetic responses to changes in the nuclear redox environment. Possible therapeutic targets in rare diseases
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo

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

Murcia
MURCIA

Dyskeratosis congenita. New models, new molecular keys and new treatments
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales

SPAGNA

Murcia
MURCIA

Finanziato da un ente associato a IRDiRCMechanisms involved in hematopoietic alterations and cancer in the dyskeratosis congenita. Search for therapies
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPreclinical innovation
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRepurposing an eu therapeutic for hemoglobinopathies
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic epidemiology of complex traits
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHematopoietic stem cell biology
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCInsights into sickle cell trait and sickle cell disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRed cell biology
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Characterization of warm autoantibodies against erythrocytic surface antigens
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Blutgruppenserologie und Transfusionsmedizin

FRANCIA

OCCITANIE
TOULOUSE

Finanziato da un ente associato a IRDiRCMTREAT-2: Targeting Matriptase-2 to develop new therapeutic strategies for iron related disorders
CHU de Toulouse - Hôpital Purpan
Institut de Recherche en Santé Digestive - INSERM IRSD U1220

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

GIAPPONE

JAPAN
ADDRESS : NOT PROVIDED - JP

ITALIA

LOMBARDIA
MILANO

PORTOGALLO

SUL
LISBOA

Non-classical hereditary hemochromatosis and other rare genetic diseases associated with disorders in iron homeostasis
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

Finanziato da un ente associato a IRDiRCThe Role of Membrane Attack Complex in Atypical Haemolytic Uraemic Syndrome
Institute of Cellular Medicine, Newcastle University, Medical School
Institute of Cellular Medicine

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

Finanziato da un ente associato a IRDiRCIMPC - Exploration of the potential of C7 blockade as a target for immune therapy in complement mediated kidney disease
Institute of Cellular Medicine, Newcastle University, Medical School
Institute of Cellular Medicine

SVEZIA

Skane
LUND

Bacterial virulence factors, innate immunity and prothrombotic mechanisms in renal disease
Skånes Universitetssjukhus
Department of Clinical Sciences, Division of Pediatrics

FRANCIA

ILE-DE-FRANCE
GIF-SUR-YVETTE

Finanziato da un ente associato a IRDiRCIn vivo proof of concept of molecules against hemolytic uremic syndrome
IBITECS CEA Saclay
Service d'Ingénierie Moléculaire des Protéines

Progetti di ricerca multicentrici