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Funded by an IRDiRC member =

Research projects

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

TOSCANA
FIRENZE

Alterations in contraction and relaxation properties of cardiac sarcomeres in familial hypertrophic cardiomyopathy (HCM): study at single myofibril level
Azienda Ospedaliero Universitaria Careggi - NEUROFARBA
Centro Interuniversitario di Medicina Molecolare e Biofisica Applicata

SWEDEN

Västerbottens läns landsting
UMEĹ

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Départements de génétique et de cardiologie, Centre de référence des maladies cardiaques héréditaires

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

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)

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

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

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 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

NOUVELLE AQUITAINE
BORDEAUX

GERMANY

Niedersachsen
GÖTTINGEN

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

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

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

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

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)

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

FRANCE

HAUTS-DE-FRANCE
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

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

UNITED KINGDOM

Oxfordshire
BEGBROKE

Multicentric Research projects