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Funded by an IRDiRC member =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig 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

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberDeterminants of neurodegeneration in ataxia telangiectasia
Fondazione IRCCS Istituto Nazionale dei Tumori
S.S. Meccanismi Molecolari di Controllo del Ciclo Cellulare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberExcitatory/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

Funded by an IRDiRC memberPREPARE : 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

Funded by an IRDiRC memberPREPARE : 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

Funded by an IRDiRC memberEuroCID: 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

Funded by an IRDiRC memberPREPARE : 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

Funded by an IRDiRC memberEuroCID: 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

Funded by an IRDiRC memberPREPARE : 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

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR 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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuromics: 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

Funded by an IRDiRC memberSTaHR : 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

Funded by an IRDiRC memberFROGH : 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

Funded by an IRDiRC memberNEUROMICS: 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

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEUROMICS: 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

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: 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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

NETHERLANDS

Zuid-Holland
LEIDEN

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe 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

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
New Children's Hospital
Rare Diseases Unit

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberPID- Net: German Network on Primary Immunodeficiency Diseases (coordination)
Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital
Care-for-Rare Center (CRCHauner)

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberPID-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

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMolecular 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

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberRHAPSODY - 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