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85 Result(s)

Funded by an IRDiRC member =

Research projects

AUSTRIA

SALZBURG
SALZBURG

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

BELGIUM

OOST-VLAANDEREN
GENT

Belgian Medical Genomics Initiative (BeMGI)
Center for Medical Genetics Ghent

BELGIUM

VLAAMS BRABANT
LEUVEN

Genetic testing in Europe - Network for the further development, harmonization, validation and standardization of services
University Hospitals Leuven - Gasthuisberg
Laboratory for Molecular Diagnostics

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

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics - CA
The Hospital for Sick Children
Department of Paediatrics

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics - CA
The Hospital for Sick Children
Division of Clinical Pharmacology and Toxicology, Department of Paediatrics

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberComputerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
University of Toronto
Department of Computer Science

FINLAND

Finland
HELSINKI

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

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
EVRY

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

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

NMD-CHIP: chip design, synthesis and technical validation for known genes involved in neuromuscular diseases (WP2)
CHU de Marseille - Hôpital de la Timone
Laboratoire de génétique moléculaire

GERMANY

Baden-Württemberg
TÜBINGEN

NEUROMICS: 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

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

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

LAZIO
ROMA

The policy of public health genomics in Italy
IRCCS Ospedale Pediatrico Bambino Gesů - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

Nuclearly encoded mitochondrial protein synthesis factors can cure the respiratory defects due to pathogenetic human equivalent base substitutions in yeast mt tRNA genes
Sapienza Universitŕ di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia Cellulare e dello Sviluppo

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 memberStudy of improving Safety of Lentiviral Gene Transfer
IRCCS Ospedale San Raffaele
Centro di Genomica, Bioinformatica e Biostatistica - Unitŕ di Genetica Umana e Molecolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCell therapy strategies for tolerance induction in humans
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberGene therapy strategies for Antigen-specific tolerance induction in vivo
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unitŕ di Ricerca Clinica Pediatrica

ITALY

LOMBARDIA
SAN DONATO MILANESE

Validation of a neuromuscular individualized quality of life measure in Italy
IRCCS Policlinico San Donato
U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari

NETHERLANDS

Gelderland
NIJMEGEN

McArm study: development of a motion controlled arm support
Radboudumc - Oost
Afdeling Revalidatie

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
AMC - Academisch Medisch Centrum
Afdeling Klinische Epidemiologie in de Kindergeneeskunde

NETHERLANDS

Utrecht
SOEST

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
VSOP
Vereniging Samenwerkende Ouder- en Patiëntenorganisaties

NETHERLANDS

Zuid-Holland
LEIDEN

NETHERLANDS

Zuid-Holland
ROTTERDAM

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - NL
Erasmus MC - Erasmus Medisch Centrum
Vakgroep Medische Informatica

POLAND

Warszawa
WARSAW

Funded by an IRDiRC memberGRIP: Global Research in Paediatrics
Instytut "Pomnik-Centrum Zdrowia Dziecka"
Klinika Anestezjologii i Intensywnej Terapii

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)

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberGRiP: Global Research in Paediatrics - ES
Hospital Universitario Cruces - Osakidetza
Unidad Neonatal

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

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

Greater London
LONDON

GRIP: Global Research in Paediatrics
St George's Hospital University of London
Institute of Infection and immunity

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Greater London
LONDON

GRIP: Global Research in Paediatrics
University College London
School of Pharmacy

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Merseyside
LIVERPOOL

GRIP: Global Research in Paediatrics
Liverpool Women's NHS Foundation Trust
Department of Women's and Children's Health

UNITED KINGDOM

Oxfordshire
BEGBROKE

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
International Centre for Life
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

UNITED KINGDOM

West Midlands
BIRMINGHAM

Multicentric Research projects