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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
Bayern
WÜRZBURG
Causes and consequences of genetic instability in humans
Universität Würzburg - Biozentrum
Institut für Humangenetik
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
GERMANY
Hessen
FRANKFURT AM MAIN
Susceptibility to infection in patients with Ataxia-telangiectasia and response to therapy with subcutaneous Immunoglobulin: A prospective observational study
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
LAZIO
ROMA
Pediatric ataxias and public healt: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
ITALY
LOMBARDIA
MILANO
Determinants of neurodegeneration in ataxia telangiectasia
Fondazione IRCCS Istituto Nazionale dei Tumori
S.S. Meccanismi Molecolari di Controllo del Ciclo Cellulare
ITALY
LOMBARDIA
MILANO
Excitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Universitŕ degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)
GERMANY
Baden-Württemberg
ULM
Genetic variation in DNA-Repair and carcinoma susceptibility
Universitätsklinikum Ulm
Institut für Humangenetik
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREPARE : Preparing for therapies in autosomal recessive ataxias - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
FRANCE
ILE-DE-FRANCE
PARIS
PREPARE : Preparing for therapies in autosomal recessive ataxias - FR
Institut du Cerveau et de la Moelle épiničre (ICM) - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
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
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
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
GERMANY
Nordrhein-Westfalen
BONN
PREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
ERA-Net for research programs on rare diseases - Germany
ITALY
LAZIO
ROMA
SPATAX: European network for hereditary spinocerebellar degenerative disorders
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare
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 Investigaçăo 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 Investigaçăo Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital Săo Sebastiăo
Serviço de Neurologia
SWITZERLAND
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: MPMT - Multiple primary malignant tumours
Addenbrooke's Hospital
Academic Department of Medical Genetics
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
FRANCE
ILE-DE-FRANCE
PARIS
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - FR
Institut du Cerveau et de la Moelle épiničre (ICM) - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
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
GERMANY
Baden-Württemberg
TÜBINGEN
NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
GERMANY
Nordrhein-Westfalen
BONN
NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Universitätsklinikum Bonn
Klinik und Poliklinik für Neurologie
GERMANY
Nordrhein-Westfalen
KÖLN
NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik
ITALY
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALY
LOMBARDIA
MILANO
NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Universitŕ degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali
JAPAN
JAPAN
ADDRESS : NOT PROVIDED - JP
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development ofpotential therapeutic medicine
Institution: Information not provided - JP
JAPAN
JAPAN
ADDRESS : NOT PROVIDED - JP
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre
Institution: Information not provided - JP
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
NETHERLANDS
Gelderland
NIJMEGEN
NETHERLANDS
Zuid-Holland
LEIDEN
NEUROMICS: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica
UNITED KINGDOM
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Improving diagnostic and care pathways in progressive supranuclear palsy and corticobasal degeneration
Institution: Information not provided - UK
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
New Children's Hospital
Rare Diseases Unit
GERMANY
Bayern
MÜNCHEN
PID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)
GERMANY
Berlin
BERLIN
PID-NET: Primary immunodeficiencies predisposing to severe bacterial infections
Otto-Heubner-Centrum für Kinder- und Jugendmedizin
Klinik für Pädiatrie mit Schwerpunkt Pneumologie und Immunologie
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
GERMANY
Niedersachsen
HANNOVER
PID- Net: Reprogramming platform and induced pluripotent disease models for the development of novel therapeutics for PID
Medizinische Hochschule Hannover
Abteilung Experimentelle Hämatologie
SPAIN
Madrid
MADRID
Molecular characterization in patients with diagnosis of primary immunodeficiency (PID) through whole exome sequencing and its functional impact
Hospital Universitario 12 de Octubre
Servicio de Inmunodeficiencias, Lactantes y Pediatría General
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
GERMANY
Bayern
MÜNCHEN
RHAPSODY - Research to Assess Policies and Strategies for Dementia in the Young
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Psychiatrie und Psychotherapie
Multicentric Research projects
- Institut du Cerveau et de la Moelle épiničre (ICM) - Hôpital Pitié-Salpętričre
- 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 Microsystčmes en Biologie et en Medecine
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- 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 Gesů - 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)
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- CHU Ibn Rochd
- Service de pédiatrie 1 - Hopital d'enfants
- 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
- 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
GM: Genodermatosis and Mediterranean
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
GERMANY
Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank
MOROCCO
Casablanca
CASABLANCA
Morocan study group on primary immunodeficiency
SPAIN
Cataluńa
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