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Research projects
GERMANY
Mecklenburg-Vorpommern
ROSTOCK
Biomarker for Hunter Disease (BioHunt): An International, multicentre, epidemiological protocol
CENTOGENE GmbH
ITALY
LIGURIA
GENOVA
Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
AUSTRIA
WIEN
WIEN
NeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel
CANADA
Alberta
EDMONTON
Mucopolysaccharidosis I Disease: Tools for Discovery and Design of Chaperone Therapeutics Based on Unique Enzyme Production Systems and the Elucidation of the Structure of alpha-L-Iduronidase
University of Alberta
Department of Biochemistry
CANADA
Ontario
OTTAWA, ONTARIO
An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
University of Ottawa
Department of Epidemiology and Community Medicine
FRANCE
GRAND-EST
VANDOEUVRE LES NANCY CEDEX
Development of a specific inhibitor of the glycosyltransferase beta4GalT7 for substrate reduction therapy in mucopolysaccharidoses: towards the hit to lead stage
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)
PORTUGAL
NORTE
PORTO
Less is more _ Substrate Reduction Rherapy for Mucopolysaccharidoses through RNAi
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
FRANCE
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
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NETHERLANDS
Zuid-Holland
ROTTERDAM
Obstructive sleep apnea in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
NETHERLANDS
Zuid-Holland
ROTTERDAM
Brain anomalies in syndromic craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
NETHERLANDS
Zuid-Holland
ROTTERDAM
Genetic causes of craniofacial anomalies
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
NETHERLANDS
Zuid-Holland
ROTTERDAM
Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
NETHERLANDS
Zuid-Holland
ROTTERDAM
Cerebral blood flow in relation to intracranial pressure in craniosynostosis
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PORTUGAL
NORTE
PORTO
Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTUGAL
NORTE
PORTO
The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
SPAIN
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
SPAIN
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
SWEDEN
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
Umeå Universitet
Department of Public Health and Clinical Medicine
UNITED KINGDOM
Essex
LONDON
Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics
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
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
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
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
ILE-DE-FRANCE
PARIS
Structural studies of cardiac myosin for therapeutical approaches against HCM
CLCC Institut Curie
Motilité structurale
ITALY
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. di Neurochirurgia Infantile
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
LAZIO
ROMA
Analysis of molecular profile of human craniosynostosis as a paradigmatic model of altered osteogenesis: identification of the molecular pathogenesis aiming to explore the discovery of new diagnostic markers and therapeutic targets
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare
NORWAY
Østlandet
OSLO
Nordic HCM-register
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
NORWAY
Østlandet
OSLO
Genetics of craniosynostosis
Oslo University Hospital, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
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
First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz
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
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 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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Regenerating cranial suture
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Quantitative characterization and predictive modeling of cranial bone development in patients with craniosynostosis
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Molecular mechanisms of tissue interactions during coronal suture development
Institution: Information not provided - US
CANADA
Ontario
OTTAWA, ONTARIO
Detection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)
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
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
Multicentric Research projects
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- MetabERN coordinating Center
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- John Radcliffe Hospital
- Department of Cardiovascular Medicine
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- A.O.U. Policlinico "G. Martino"
- U.O.C. di Neuropsichiatria Infantile
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Faculty of Medical and Human Sciences - University of Manchester
- Department of Dental Medicine and Surgery
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ITALY
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
ITALY
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ITALY
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
UNITED KINGDOM
Oxfordshire
OXFORD
BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
GERMANY
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
UNITED KINGDOM
Greater Manchester
MANCHESTER
EUROCRAN: European collaboration on craniofacial anomalies - Eurocleft clinical network (TERMINATED)
GERMANY
Sachsen-Anhalt
MAGDEBURG