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Research projects
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
GERMANY
Hessen
FRANKFURT AM MAIN
Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Pädiatrische Allergologie, Pneumologie und Mukoviszidose
ITALY
LAZIO
ROMA
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families
A.O. S. Andrea
Servizio di Genetica Medica
ITALY
LOMBARDIA
MILANO
Excitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)
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
GERMANY
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
CCI am Universitätsklinikum Freiburg
Institut für Immundefizienz
GERMANY
Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
GERMANY
Baden-Württemberg
HEIDELBERG
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
GERMANY
Baden-Württemberg
ULM
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation
GERMANY
Niedersachsen
HANNOVER
Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie
IRELAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
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
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
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
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
UNITED STATES
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
BELGIUM
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
CANADA
Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology
FINLAND
Finland
HELSINKI
Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital
FRANCE
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
GERMANY
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
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
SWEDEN
Stockholms läns landsting
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services
Multicentric Research projects
- 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
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Universitätsklinikum Aachen
- GeNeMove - Netzwerksekretariat
- Fondazione EBRI
- Istituto di Neurobiologia e Medicina Molecolare
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
- 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
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
- Care-for-Rare Center (CRCHauner)
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Lund University
- Department of Experimental Medical Science
- The Great North Children's Hospital, Royal Victoria Infirmary
- Regional Department of Immunology
- Universitätsklinikum Bonn (AöR)
- Kompetenznetz Degenerative Demenzen - Geschäftsstelle
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- 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
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
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge
GERMANY
Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias
GERMANY
Nordrhein-Westfalen
AACHEN
GeNeMove: German Network of Hereditary Movement Disorders
ITALY
LAZIO
ROMA
ITASPA: clinical and genetic analysis of spastic paraplegias
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
ORSAY
CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells
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)
ITALY
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
GERMANY
Baden-Württemberg
FREIBURG
EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies
GERMANY
Baden-Württemberg
TÜBINGEN
Ataxia Study Group (ASG)
GERMANY
Bayern
MÜNCHEN
PID-NET: German Network on Primary Immunodeficiency Diseases
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
SWEDEN
Skane
LUND
IDR: ImmunoDeficiency Resource
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
UK Primary Immunodeficiency Network
GERMANY
Nordrhein-Westfalen
BONN
Competence Network Degenerative Dementias
ITALY
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis
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