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Research projects
ITALY
EMILIA ROMAGNA
BOLOGNA
Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
NORWAY
Østlandet
NESODDTANGEN
Levels of activity and independence: a study of the interface of current health policy discourse and subjective realities
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Development of Pharmacological Treatment of Osteochondromas
Institution: Information not provided - US
AUSTRIA
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
AUSTRIA
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
AUSTRIA
WIEN
WIEN
Christian Doppler Laboratory for Next Generation CAR-T Cells
St. Anna Kinderkrebsforschung
Children's Cancer Research Institute
AUSTRIA
WIEN
WIEN
Instand-NGS4P: Integrated and standardized NGS workflows for Personalised therapy - AT
St. Anna Kinderkrebsforschung
BELGIUM
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)
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
GERMANY
Baden-Württemberg
FREIBURG
MTB-FR: Register study of the Molecular Tumor Board (tumor entity-spanning molecular characterization program to evaluate individualized tumor biology-guided therapy in adults with rare and advanced tumor entities
Universitätsklinikum Freiburg
Klinik für Innere Medizin I - Hämatologie, Onkologie und Stammzelltransplantation
GERMANY
Baden-Württemberg
HEIDELBERG
ERA-NET TRANSCAN: BRCAddict - BRCAness as a therapeutic target for solid high-risk childhood tumors
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
GERMANY
Bayern
AUGSBURG
CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors
Universitätsklinikum Augsburg
II. Medizinische Klinik
ITALY
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
UNITED STATES
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
UNITED STATES
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Project 1: optimization of therapeutic approaches for children with relapsed sarcomas using precision medicine.
Institution: Information not provided - US
CANADA
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
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
FRANCE
HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle
GERMANY
Baden-Württemberg
HEIDELBERG
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum
GERMANY
Niedersachsen
GÖTTINGEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
GERMANY
Nordrhein-Westfalen
MÜNSTER
CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory
SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
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
SPAIN
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
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
GERMANY
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
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SWITZERLAND
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
UNITED KINGDOM
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
UNITED KINGDOM
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
Multicentric Research projects
- Istituto Ortopedico Rizzoli - Ospedale
- Struttura Complessa Malattie Rare Scheletriche
- LUMC - Leids Universitair Medisch Centrum
- Afdeling Pathologie
- 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
- Northern Institute for Cancer Research, Medical School, Newcastle University
- Northern Institute for Cancer Research
- UZ Leuven - Campus Gasthuisberg
- Centrum Menselijke Erfelijkheid - UZ Leuven
- UZ Leuven - Campus Gasthuisberg
- Centrum Menselijke Erfelijkheid - UZ Leuven
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Oxford University Begbroke Science Park
- Zyoxel Limited
ITALY
EMILIA ROMAGNA
BOLOGNA
Ma.Tr.OC: Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers for Malignant Transformation of Osteochondromas
NETHERLANDS
Zuid-Holland
LEIDEN
EUROBONET: European bone tumors network
AUSTRIA
WIEN
WIEN
ExPO-r-Net: European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment
GERMANY
Berlin
ADDRESS: NOT PROVIDED - DE
TORPEDO: Targeting Of Resistance in PEDiatric Oncology
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
TRANSCAN-2: Aligning national/regional translational cancer research programmes and activities
ITALY
LOMBARDIA
MILANO
RARECARE: surveillance of rare cancers in Europe
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
EPOC: European paediatric oncology off-patent medicines consortium
BELGIUM
VLAAMS BRABANT
LEUVEN
EURO-CDG: A European research network for a systematic approach to CDG and related diseases
BELGIUM
VLAAMS BRABANT
LEUVEN
EUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation
FRANCE
ILE-DE-FRANCE
ORSAY
CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
UNITED KINGDOM
Oxfordshire
BEGBROKE