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Research projects
GERMANY
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular
FRANCE
ILE-DE-FRANCE
PARIS
Development of a Gene Therapy with Neuroglobin aimed at treating Cerebellar Ataxias, independently of their genetic origin, by beneficiating of neuroglobin durable protective effect on mitochondrial function
Université Pierre et Marie Curie - Paris 6 - UPMC
INSERM, U968
IRELAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
PORTUGAL
NORTE
PORTO
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva
PORTUGAL
NORTE
PORTO
Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
PORTO
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião
Serviço de Neurologia
SPAIN
Comunidad Valenciana
VALENCIA
Clinical studies, genetic bases and prognostic biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas
SPAIN
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
UNITED KINGDOM
Greater London
LONDON
Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma
UNITED KINGDOM
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium
UNITED KINGDOM
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
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
FRANCE
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
SPAIN
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
UNITED STATES
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
CANADA
Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology
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
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SWITZERLAND
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
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
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- IURC - Institut Universitaire de Recherche Clinique
- Laboratoire de génétique moléculaire
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Fondazione EBRI
- Istituto di Neurobiologia e Medicina Molecolare
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- 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
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- Camden Mews Day Hospital
- North Thames DeNDRoN, Camden & Islington Mental Health Trust
- Wythenshawe Hospital
- Dementias & Neurodegenerative Diseases Research Network
- Moorgreen Hospital
- Memory & Assessment & Research Centre
- Julian Hospital
- Churchill Hospital
- Fulbrook Centre
- St Martin's Hospital
- Research Institute for the Care of the Elderly (RICE)
- Newcastle General Hospital
- Wolfson Research Centre
- Alzheimer Europe Office
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
GERMANY
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
FRANCE
ILE-DE-FRANCE
PARIS
SPATAX: European network for hereditary spinocerebellar degenerative disorders
FRANCE
OCCITANIE
MONTPELLIER
Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias
GERMANY
Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias
ITALY
LAZIO
ROMA
ITASPA: clinical and genetic analysis of spastic paraplegias
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCE
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
UNITED KINGDOM
Greater London
LONDON
DENDRON - north Thames region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Greater Manchester
MANCHESTER
DENDRON - north west region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Hampshire
SOUTHAMPTON
DENDRON - south coast region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Norfolk
NORWICH
DENDRON - east Anglia region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Oxfordshire
OXFORD
DENDRON - Thames valley region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Somerset
BATH
DENDRON - south west region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
DENDRON - north east region: Dementias & Neurodegenerative Diseases Research Network
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence
GERMANY
Niedersachsen
GÖTTINGEN