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Funded by an IRDiRC member =

Research projects

FRANCE

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

GERMANY

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

GERMANY

Baden-Württemberg
ULM

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

GERMANY

Bayern
WÜRZBURG

Causes and consequences of genetic instability in humans
Universität Würzburg - Biozentrum
Institut für Humangenetik

GERMANY

Berlin
BERLIN

Genetically based defects in the repair of DNA damages
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Somatic gene therapy in patients with fanconi anemia
Universitätsklinikum Düsseldorf
Hals-Nasen-Ohren-Klinik

ITALY

CAMPANIA
NAPOLI

Model studies of the Fanconi/brca/recombination pathway
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Ricombinazione e riparazione del DNA

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberRole of LINE-1 retrotransposition in DNA-repair associated human diseases
GENYO - Genómica e Investigación Oncológica
Biologia de Retroelementos LINE-1

SPAIN

Madrid
MADRID

Regenerative medicine for Fanconi anemia: generation of disease-free patient-specific iPS cells, and iPSC-derived hematopoietic progenitors and platelets
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

UNITED KINGDOM

Greater London
LONDON

Investigation of the diagnostic relevance of RAD51C mutations in Fanconi Anemia
Kings College School of Medicine
Department of Medical and Molecular Genetics

FRANCE

ILE-DE-FRANCE
PARIS

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberApoptoMDS: 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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics

GERMANY

Saarland
HOMBURG

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments -DE-
Universitätsklinikum des Saarlandes
Institut für Molekulare Zellbiologie

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

LAZIO
ROMA

GENESKIN: European network on rare genetic skin diseases (coordination)
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Laboratorium voor Rode Bloedcel Onderzoek

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberCoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments - ES
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en fisiopatología y bases moleculares en hematología

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberGenetic characterization and identification of new target genes for hte diagnosis of unclassified congenital anemias
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en fisiopatología y bases moleculares en hematología

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

CANADA

Ontario
TORONTO

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

ESDN: European Skeletal Dysplasia Network (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

Multicentric Research projects