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Research projects

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

WIEN
ADDRESS: NOT PROVIDED - AT
HARMONY: Healthcare Alliance for Resourceful Medicines Offensive against Neoplasms in HematologY - AT
Institution: Information not provided - AT

WIEN
ADDRESS: NOT PROVIDED - AT
BIMI: Multicenter Case-control Study of Breakthrough Invasive Mold Infections Under Posaconazole Prophylaxis - AT
Institution: Information not provided - AT

Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

ILE-DE-FRANCE
PARIS
Immunology of the medullary microenvironment in Myelodysplastic Syndromes
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Groupe Francophone des Myélodysplasies (GFM)

Baden-Württemberg
FREIBURG
EWOG-MDS 2006: Prospective non-randomized multi-center study for epidemiology and characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leukaemia (JMML) in childhood
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

Baden-Württemberg
ULM
AMLSG BIO: Registry Study on Patient Characteristics, Biolo gical Disease Profile and Clinical Outcome in Acute Myeloid Leukemia and Related Neoplasms, and Higher Risk Myelodysplastic Syndrome - The Biology and Outcome (BiO)-Project
Universitätsklinikum Ulm am Oberen Eselsberg
Klinik für Innere Medizin III

Castilla - León
SORIA
UMBRELLA PROJECT: Unified platforM for a Better integRal Evaluation of MyeLodyspLastic Syndromes in SpAin
Fundación del Instituto de Estudios de Ciencias de la Salud de Castilla y León

Cataluña
BADALONA
An Integrated European Platform to Conduct Translational Studies in Myelodysplastic Syndromes Based on the EuroBloodNet Infrastructure - ES
IJC - Instituto de Investigación contra la Leucemia Josep Carreras, Campus HGTiP
Grupo de investigación de síndromes mielodisplásicos

Cataluña
BADALONA
Monitoring Mutational Burden in Low Risk MDS Patients Using Sequential Peripheral Blood Samples
IJC - Instituto de Investigación contra la Leucemia Josep Carreras, Campus HGTiP
Grupo de investigación de síndromes mielodisplásicos

Region Stockholm
HUDDINGE
Molecular pathogenesis in myelodysplastic syndromes and acute myeloid leukemia
Karolinska Institutet - Huddinge
Department of Medicine, Huddinge (MedH)

AUVERGNE-RHONE-ALPES
LYON
Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

BOURGOGNE-FRANCHE-COMTE
DIJON
Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3
Laboratoire d'Economie de Dijon (LEDi)

Baden-Württemberg
FREIBURG
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

Baden-Württemberg
TÜBINGEN
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Department für Innere Medizin - Medizinische Universitätsklinik Tübingen
Innere Medizin II - Onkologie, Hämatologie, Klinische Immunologie, Rheumatologie und Pulmologie

Hessen
FRANKFURT AM MAIN
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Frankfurt
Schwerpunkt Onkologie, Hämatologie und Hämostaseologie

Niedersachsen
HANNOVER
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Medizinische Hochschule Hannover
Institut für Humangenetik

Nordrhein-Westfalen
DÜSSELDORF
MyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Düsseldorf
Klinik für Kinder-Onkologie, -Hämatologie und klinische Immunologie

Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Cataluña
SABADELL
Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí
Laboratorio de Genética de la UDIAT-CD

Suisse Alémanique
BERN
Exploiting metabolic liabilities in leukemic stem cells for targeted therapy of myeloid malignancies
Universitätsspital Inselspital
Universitätsklinik für Hämatologie und Hämatologisches Zentrallabor (UKH-HZL)

Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine

OBERÖSTERREICH
LINZ
EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde

WIEN
WIEN
Molecular studies of key molecules in immune signaling - Identification of novel players & rescue strategies in natural killer cell cytotoxicity
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

OOST-VLAANDEREN
GENT
Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

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

Finland
HELSINKI
Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Nutrient transporters: a new tool for characterization of hematopoietic progenitors with optimal transplantation potential
Institution: Information not provided - FR

ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Niedersachsen
HANNOVER
German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
Medizinische Hochschule Hannover
Abteilung für Virologie

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Østlandet
OSLO
Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID)
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

Cataluña
BARCELONA
Integrating genome and transcriptome profiling for the identification of novel genetic basis of primary immunodeficiencies
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine (LABMED)

Suisse Alémanique
BASEL
The role of ZNF74 in the generation and maintenance of immunological memory
Universitätsspital Basel
Departement Biomedizin

Suisse Alémanique
SCHLIEREN
Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy

Suisse Alémanique
SCHLIEREN
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy

Suisse Alémanique
ZÜRICH
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie

Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

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

WIEN
ADDRESS: NOT PROVIDED - AT
A Quality Improvement Project to Implement Psychosocial Care Standards in Clinical Practice in Pediatric Oncology "My Logbook! - I Know my Way Around!" Development and Evaluation of a Consensus and Evidence Based Psychosocial Therapy Tool in a Preliminary Psychosocial Study on Therapy Optimization - AT
Institution: Information not provided - AT

WIEN
WIEN
PanCareSurPass: PanCare studies of the scale-up and implementation of the digital Survivorship Passport to improve people-centred care for childhood cancer survivors - AT
Gesundheit Österreich GmbH

WIEN
WIEN
Christian Doppler Laboratory for Next Generation CAR-T Cells
St. Anna Kinderkrebsforschung
Children's Cancer Research Institute

WIEN
WIEN
Instand-NGS4P: Integrated and standardized NGS workflows for Personalised therapy - AT
St. Anna Kinderkrebsforschung

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Follow-up of Fertility in Young Adults Who Did or Did Not Store Testicular Tissue Before Gonadotoxic Treatment for Fertility Preservation
Universitair Ziekenhuis Brussel
Universitair Ziekenhuis Brussel (UZ Brussel)

Baden-Württemberg
HEIDELBERG
ERA-NET TRANSCAN: BRCAddict - BRCAness as a therapeutic target for solid high-risk childhood tumors
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

VENETO
PADOVA
Modulating BMP axis to prevent muscle loss, dismantling of NMJ and denervation in cancer cachexia
Venetian Institute of Molecular Medicine
Fondazione per la ricerca Biomedica avanzata ONLUS

Washington
ADDRESS: NOT PROVIDED - US
Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: the kidscanseq study
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Personalized whole body staging for children with cancer: a solution to the conundrum of long-term side effects from ct and pet/ct scans
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1: optimization of therapeutic approaches for children with relapsed sarcomas using precision medicine.
Institution: Information not provided - US

Madrid
MADRID
Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras
Multicentric Research projects
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Universitätsklinikum Mannheim
- European Leukemia Net - Network Management Center
- Institution: Information not provided - IT
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Tumor Immunologie
- Institution: Information not provided - NL
- Guy's Hospital
- European Society for Blood and Marrow Transplant Society
- St. Anna Kinderkrebsforschung
- Children's Cancer Research Institute
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Lund University
- Department of Experimental Medical Science
- St. Anna Kinderkrebsforschung
- Children's Cancer Research Institute
- Institution: Information not provided - DE
- Institution: Information not provided - IT
- Fondazione IRCCS Istituto Nazionale dei Tumori
- S.S. di Epidemiologia Valutativa
- Fondazione IRCCS Istituto Nazionale dei Tumori
- S.S. di Epidemiologia Valutativa
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Northern Institute for Cancer Research, Medical School, Newcastle University
- Northern Institute for Cancer Research
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine

Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge

Baden-Württemberg
MANNHEIM
EUROPEAN LEUKEMIA NET: Strengthen and develop scientific and technological excellence in research and therapy of leukemia

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Euro MDS: An integrated European platform to conduct translational studies in myelodysplastic syndromes based on the EuroBloodNet infrastructure

Gelderland
NIJMEGEN
MDS-RIGHT: Providing the right care to the right patient with MyeloDysplastic Syndrome at the right time

Utrecht
ADDRESS: NOT PROVIDED - NL
Triage-MDS: TRanslational Implementation of Genetic Evidence in the management of MDS.

Greater London
LONDON
EBMT: the European group for Blood and Marrow Transplantation

WIEN
WIEN
ENCCA: European Network for Cancer Research in Children and Adolescents

Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Baden-Württemberg
FREIBURG
EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies

VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Region Skåne
LUND
IDR: ImmunoDeficiency Resource

WIEN
WIEN
ExPO-r-Net: European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment

Berlin
ADDRESS: NOT PROVIDED - DE
TORPEDO: Targeting Of Resistance in PEDiatric Oncology

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
TRANSCAN-2: Aligning national/regional translational cancer research programmes and activities

LOMBARDIA
MILANO
RARECARE: surveillance of rare cancers in Europe

LOMBARDIA
MILANO
RARECARENet: Network informativo sui tumori rari

LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)

Tyne & Wear
NEWCASTLE UPON TYNE
EPOC: European paediatric oncology off-patent medicines consortium

ILE-DE-FRANCE
ORSAY