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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

Hessen
LANGEN

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie

SPAIN

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

SPAIN

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFa ddr pathway in germline integrity
Institution: Information not provided - US

FRANCE

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

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

GERMANY

Baden-Württemberg
HEIDELBERG

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

GERMANY

Niedersachsen
HANNOVER

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

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

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
HINXTON

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

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
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Multicentric Research projects