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81 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

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics -FI-
HUSLAB
Poison Information Centre

FINLAND

Finland
HELSINKI

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 systčme neuromusculaire

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Improvement of procedures for the prenatal diagnosis of genetics disorders resulting from mitochondrial DNA mutations
CHU Paris - Hôpital Necker-Enfants Malades
Laboratoire de Génétique Moléculaire

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 Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
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 hospitaličre Sainte-Marie
Service d'Aide ŕ 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

Niedersachsen
GÖTTINGEN

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

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 Universitŕ degli Studi di Napoli
Laboratorio di Genetica Medica

ITALY

EMILIA ROMAGNA
FERRARA

Involvement of mitochondrial proteins in autophagy: a possible link with mitochondrial disorders
Universitŕ 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
Universitŕ 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

Gelderland
NIJMEGEN

Funded by an IRDiRC memberTowards treatment of MELAS syndrome: drug development based on newly identified compounds
Radboudumc - Radboud universitair medisch centrum
Radboud Centrum voor Mitochondriële Geneeskunde

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberMolecuar mechanisms and modulation of mitophagy and mitocondrial biogenesis in cellular models of MELAS disease
Centro Andaluz de Biología del Desarrollo (CABD)
Biología celular y Biotecnología

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

Cataluńa
ESPLUGUES DE LLOBREGAT

Funded by an IRDiRC memberMitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models
Hospital Universitari Sant Joan de Déu
Grupo de investigación de enfermedades neurológicas minoritarias de base genčtica en el ámbito pediátrico

SPAIN

Madrid
MADRID

Using induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial diseases
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Devon
EXETER

Exploring the Genetics of Renal Developmental Disease
Royal Devon and Exeter Hospital - Wonford site
Department of Urology

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