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Forschungsprojekt(e)
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Glykogenosen (BioGlycogen): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Pompe-Krankheit (BioPompe): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
FRANKREICH
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Pathomechanisms in Andersen's syndrome : insights into excitable and non excitable tissues
Institution: Information not provided - FR
FRANKREICH
ILE-DE-FRANCE
EVRY
TRACeGSDIII : Translational optimization of AAV vectors to cure GSDIII
Généthon
Centre de Recherche Généthon
FRANKREICH
ILE-DE-FRANCE
PARIS
Analysis of cardiac phenotype and underlying genotype in glycogen storage disease type 2B
APHP.Sorbonne Université, Hôpital de la Pitié-Salpętričre
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires
FRANKREICH
ILE-DE-FRANCE
PARIS
Development of molecular therapies for glycogenosis type II (Pompe disease)
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"
ITALIEN
CAMPANIA
NAPOLI
Identification of novel therapeutic approaches to lysosomal disorders
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALIEN
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Strategies to enhance the efficacy of enzyme replacement and gene therapy in Pompe disease
Institution: Information not provided - IT
ITALIEN
LIGURIA
GENOVA
Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
KANADA
Québec
SHERBROOKE
NOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
NIEDERLANDE
Utrecht
UTRECHT
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg
NIEDERLANDE
Zuid-Holland
LEIDEN
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde
SPANIEN
Andalucía
GRANADA
Optimization of genomic editing for its application to gene therapy of monogenic diseases
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular
SPANIEN
Cataluńa
BARCELONA
Advances in imaging techniques and therapy in muscular dystrophies: evaluation and treatment of fibrosis
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología
SPANIEN
Cataluńa
BARCELONA
New pharmacological approach for treatment of McArdle's disease and other minor glycogenosis and update of European patient registry "EUROMAC"
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
SPANIEN
Cataluńa
BARCELONA
Actions to improve the quality of life of McArdle disease patients: a multidisciplinary approach
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
SPANIEN
Madrid
MADRID
McArdle disease: 2D/3D therapeutic approaches based on the use of iPSCs
Instituto de Investigación Hospital 12 de Octubre
Grupo de Investigación Traslacional con Células iPS
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy platform for rare diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Animal care: supporting research on pathogenesis and treatment of autoimmunity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic metabolic myopathies--phosphofructokinase/acid maltase deficiency
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Regulation of subcellular organization in skeletal muscle
Institution: Information not provided - US
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
GSD1Nephro : Molecular characterization of the long-term onset of nephropathy and new treatments in glycogen storage diseases type 1
Faculté de médecine - RTH Laënnec
Nutrition, Diabčte et Cerveau - Inserm U1213
ITALIEN
CAMPANIA
NAPOLI
Unveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b
AOU Universitŕ degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Dipartimento di Medicina molecolare e Biotecnologie Mediche
ITALIEN
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
KANADA
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
KANADA
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
SCHWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SCHWEIZ
Suisse Alémanique
ZÜRICH
Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of heritable human disorders
Institution: Information not provided - US
FRANKREICH
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANKREICH
PAYS DE LA LOIRE
NANTES
FROGH : 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
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPANIEN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multizentrische Forschungsprojekte
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- University of Ottawa
- Faculty of Medicine -
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesů - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- University of British Columbia
- Maternal Infant Child and Youth Research Network
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
Midlands Muscle Network
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANKREICH
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
KANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
VEREINIGTES KONIGREICH
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
VEREINIGTES KONIGREICH
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
FRANKREICH
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANKREICH
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIEN
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
KANADA
Colombie-Britannique
VANCOUVER