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88 Result(s)

Funded by an IRDiRC member =

Research projects

AUSTRIA

SALZBURG
SALZBURG

Funded by an IRDiRC memberGENOMIT - Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - AT
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Universitätsklinik für Kinder- und Jugendheilkunde

BELGIUM

ANTWERPEN
ANTWERPEN

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMitochondria, metabolism and disease
Biocenter 1, University of Helsinki
Institute of Biotechnology

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
Biomedicum Helsinki 2U
Institute for Molecular Medicine Finland

FINLAND

Finland
HELSINKI

Molecular basis of mitochondrial disorders
University of Helsinki
Molecular Neurology

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMechanisms and consequences of mitochondrial translation defects
University of Helsinki
Molecular Neurology

FINLAND

Finland
TAMPERE

Funded by an IRDiRC memberMitochondria, metabolism and disease
University of Tampere
Institute of Biomedical Technology

FRANCE

AQUITAINE
BORDEAUX

FRANCE

FRANCHE-COMTE
STRASBOURG

Funded by an IRDiRC memberClinical and psychopathological approach of neuromuscular disease on gender identity
Université de Strasbourg
Subjectivité, lien social et modernité (EA3071)

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberMuscle stem cell quiescence and heterogeneity
Faculté de Médecine de Créteil
Département Biologie du système neuromusculaire

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

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
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberChildbirth and parenthood in women with motor disability related to rare diseases
Fondation hospitalière Sainte-Marie
Service d'Aide à la Parentalité des Personnes en Situation de Handicap

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique des maladies mitochondriales"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHUMAn Neuromuscular Integrative System for drug discovery
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

FRANCE

NORD-PAS-DE-CALAIS
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - UK
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

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

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
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

GERMANY

Niedersachsen
HANNOVER

Intrauterine development of energy metabolism
Medizinische Hochschule Hannover
Arbeitsgruppe Stoffwechselerkrankungen und Neuropädiatrie

GERMANY

Niedersachsen
HANNOVER

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

HUNGARY

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

EMILIA ROMAGNA
FERRARA

Involvement of mitochondrial proteins in autophagy: a possible link with mitochondrial disorders
Università degli Studi di Ferrara
Dipartimento di Medicina Sperimentale e Diagnostica

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

ITALY

TOSCANA
PISA

Funded by an IRDiRC memberDeveloping tools for trial readiness in primary mitochondrial myopathies of the adulthood
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
U.O. di Neurologia - Neurofisiopatologia

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Aragón
ZARAGOZA

Funded by an IRDiRC memberNew mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites
Universidad de Zaragoza. Facultad de Veterinaria
Departamento de Bioquímica y Biología Molecular y Celular (F. Veterinaria)

SPAIN

Madrid
MADRID

Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Grupo de respuesta inmune innata

SWEDEN

Stockholms läns landsting
HUDDINGE

Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

SWEDEN

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

Avon
BRISTOL

Clinical and molecular genetics study of Barth syndrome
St Michael's Hospital
Department of Clinical Genetics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

UNITED KINGDOM

Greater London
LONDON

Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
Guy's Hospital
Health Psychology Section, Psychology Department, Institute of Psychiatry

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

UNITED KINGDOM

Oxfordshire
BEGBROKE

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
PEALS Research Centre, Newcastle University, 4th Floor
Policy, Ethics and Life Sciences (PEALS) Research Centre

Multicentric Research projects