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Funded by an IRDiRC member = Member of a ERN =

Research projects

SWEDEN

Region Västerbotten
UMEÅ

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCE

ILE-DE-FRANCE
PARIS

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

AUSTRIA

WIEN
WIEN

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CURE-DM1: In vivo CRISPR/Cas9-mediated correction of triplet nucleotide repeat expansion in DM1
VUB_ Vrije Universiteit Brussel, Campus Jette
Department of Gene Therapy and Regenerative Medicine

BELGIUM

VLAAMS BRABANT
HEVERLEE (LEUVEN)

"3DMyoDM1": A novel human 3D in-vitro disease model for DM1
Laboratory of Bioengineering and Morphogenesis, KU Leuven
Laboratory of Bioengineering and Morphogenesis

CANADA

Ontario
TORONTO

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
JONQUIÈRE

Funded by an IRDiRC memberMotor, multisystemic and social participation assessment in myotonic dystrophy type 1 : a 9-year longitudinal study
CSSS - Centre de santé et de services sociaux de Jonquière
Centre de réadaptation Le Parcours

CANADA

Québec
QUÉBEC

Development of a treatment for Friedreich ataxia based on the administration of a TALE driving the expression of frataxin.
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Laboratoire de Génétique Humaine

CANADA

Québec
SHERBROOKE

Funded by an IRDiRC memberNOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

Funded by an IRDiRC memberLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

CYPRUS

Cyprus
NICOSIA

Funded by an IRDiRC memberDéveloppement de biomarqueurs à base de miARN pour suivre les progrès de la dystrophie myotonique de type I
The Cyprus Institute of Neurology and Genetics
Molecular Genetics, Function & Therapy

FINLAND

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberMechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPreclinical assessment of clinic ready agents for the treatment of muscular dystrophy and spinal muscular atrophy
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
EVRY

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
GARCHES

Understanding the pathophysiology of Fabry disease
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Génétique Médicale - Centre de référence Maladies Rares

FRANCE

ILE-DE-FRANCE
PARIS

Analysis of cardiac phenotype and underlying genotype in glycogen storage disease type 2B
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCE

ILE-DE-FRANCE
PARIS

Multidisciplinary Observational Study of Patients With Friedreich Ataxia
CHU Paris - Hôpital Robert Debré
Neurologie pédiatrique et maladies métaboliques

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM1 disease mechanisms in the central nervous system: from brain cell-specific pathogenesis to misregulated glutamate homeostasis
Centre de Psychiatrie et Neurosciences
Neurobiologie du vieillissement normal et pathologique

FRANCE

ILE-DE-FRANCE
PARIS

Development of molecular therapies for glycogenosis type II (Pompe disease)
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberTricyclo-DNA antisense oligonucleotide treatment for Myotonic Dystrophy
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Dystrophie Myotonique, Physiopathologie & Biothérapie"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberiDM-scope: the international French-Quebec myotonic dystrophy registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

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

NOUVELLE AQUITAINE
BORDEAUX

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
CHU de Bordeaux-GH Pellegrin
Laboratoire de génétique moléculaire

FRANCE

OCCITANIE
MONTPELLIER

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Synthetic biology and Friedreich's Ataxia
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberFRACOL: Synthetic biology to approach Friedreich ataxia - FR
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

GERMANY

Baden-Württemberg
HEIDELBERG

GERMANY

Bayern
ERLANGEN

Neuromuscular endplate pathology in autosomal dominant and recessive desminopathies
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ITALY

CAMPANIA
NAPOLI

Identification of novel therapeutic approaches to lysosomal disorders
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALY

LAZIO
ROMA

Molecular determinants of neurodegenerative diseases
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALY

LOMBARDIA
CUSANO MILANINO

ITALY

LOMBARDIA
SAN DONATO MILANESE

Effect of Migalastat on Cardiac Involvement in Fabry Disease
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale

ITALY

SICILIA
PALERMO

Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDevelopment of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
Kyoto University Graduate School of Medicine
Department of Anatomy and Developmental Biology

JAPAN

JAPAN
MIYAGI

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAN

JAPAN
OSAKA

Funded by an IRDiRC memberEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

JAPAN

JAPAN
TOKYO

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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of Gene Therapy for Mucopolysaccharidosis Type II
The Jikei University School of Medicine
Division of Gene Therapy, Research Center for Medical Sciences

PORTUGAL

NORTE
PORTO

Fabry disease- an immunological study
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberDevelopment of a strategy of cell-gene therapy for treatment of Pompe disease
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberOptimization of genomic editing for its application to gene therapy of monogenic diseases
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberDIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Investigación Neuromuscular y Neuropediátrica

SPAIN

Cataluña
BARCELONA

New pharmacological approach for treatment of McArdle's disease and other minor glycogenosis and update of European patient registry "EUROMAC"
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberImproved treatment of lysosomal deposition diseases using optimized nanometric vehicles
Vall d'Hebron Institut de Recerca VHIR
CIBBIM-Nanomedicina. Direccionamento y Liberación Farmacológica

SPAIN

Comunidad Valenciana
VALENCIA

Genomic edition of the FXN Gene through the CRISPR / Cas9 system in lymphocytes of patients with Friedreich's ataxia
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Comunidad Valenciana
VALENCIA

Validation of circulating microRNAs as prognostic biomarkers and clinical evolution in Friedreich ataxia. Towards precision medicine in Rare Diseases
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberNew Therapies in Friedreich Ataxia
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTherapeutic modulation of MBNL genes as innovative treatments for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en genómica traslacional

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberPreclinical development of an innovative drug for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en genómica traslacional

SPAIN

Comunidad Valenciana
VALENCIA

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberMyoblots for rapid evaluation of new treatments for myotonic dystrophy (MaTILDa)
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en enfermedades neuromusculares

SWEDEN

Region Stockholm
HUDDINGE

The functional organisation of the brain
Karolinska Institutet - Huddinge
Department of Clinical Neuroscience

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberAberrant mitochondrial redox regulation in Friedreich's Ataxia
Sanford Research/University of South Dakota
VITIELLO LAB- Depatment of Pediatrics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGene therapy platform for rare diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRna toxicity and muscle regeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRegulation of subcellular organization in skeletal muscle
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIn vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOpposing pathways in mammalian sex determination
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects