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Research projects

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Funded by an IRDiRC memberPoLiMeR - Polymers in the Liver: Metabolism and Regulation - AT
Institution: Information not provided - AT

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GERMANY

Mecklenburg-Vorpommern
ROSTOCK

Biomarker for Glycogen Storage Diseases (BioGlycogen): An International, multicentre, epidemiological protocol
Centogene AG

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CANADA

Colombie-Britannique
VICTORIA

Funded by an IRDiRC memberSilent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberBeyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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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

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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

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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

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ESTONIA

Tartu
TARTU

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics

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FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan
Folkhälsan Research Center

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ERN
FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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HUNGARY

Közép-Magyarország
BUDAPEST

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology

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ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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ITALY

TOSCANA
SESTO FIORENTINO (FIRENZE)

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia

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NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie

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SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberIDOLS-G: Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño - ES
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

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SWEDEN

Region Stockholm
STOCKHOLM

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

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SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMetabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US

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BELGIUM

ANTWERPEN
ANTWERPEN

Funded by an IRDiRC memberA preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken
Peripheral Neuropathy Research Group

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CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberInhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa
Faculty of Medicine -

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberL'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Funded by an IRDiRC memberCollaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
CHU de Lyon HCL - GH Est
Centre de biotechnologie cellulaire

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FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Funded by an IRDiRC memberEarly identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant
Laboratoire EFCR/Pneumologie

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberInterplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberAmino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

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FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberDevelopment and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberTRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"

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FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberAn integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire

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FRANCE

ILE-DE-FRANCE
GARCHES

Funded by an IRDiRC memberPatient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases
Institut National de la Santé et de la Recherche Médicale

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberCollaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

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FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease
CHU de Nantes
CHU Nantes

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FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberNew modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes
CHU Nantes

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberModelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberA quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université
Centre de Résonance Magnétique Biologique et Médicale

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ISRAEL

ISRAEL
TEL AVIV

Funded by an IRDiRC memberA quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL
University of Tel-Aviv
Dep. of Bio-Medical Engineering

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ITALY

LAZIO
ROMA

Funded by an IRDiRC memberCellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

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NORWAY

Østlandet
OSLO

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål

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SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

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SPAIN

Madrid
MADRID

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

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UNITED STATES

California
PALO ALTO

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

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ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

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Multicentric Research projects