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Research projects

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of cognitive deficits in dystroglycanopathies
Institution: Information not provided - US

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation - FR
Faculté des Sciences et Technologies - Université de Lille
UGSF - Unité de glycobiologie structurale et fonctionnelle

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 3)
Dietmar-Hopp-Stoffwechselzentrum
Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberEUROGLYCAN: Towards a new era for the identification and characterisation of inborn errors of glycosylation DE (partner no 4)
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

CANADA

Alberta
CALGARY

Funded by an IRDiRC memberIdentifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary
Department of Biochemistry and Molecular Biology

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

Funded by an IRDiRC memberDifferential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberSatellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

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
OTTAWA, ONTARIO

Funded by an IRDiRC memberSIX family transcription factors in adult muscle regeneration.
University of Ottawa
Faculty of Medicine -

FRANCE

AUVERGNE-RHONE-ALPES
VILLEURBANNE

FRANCE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

FRANCE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberIntermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires
Laboratoire de recherche sur les obésités

FRANCE

PROVENCE-ALPES-COTE D'AZUR
AIX-EN-PROVENCE

ISRAEL

ISRAEL
REHOVOT

Funded by an IRDiRC memberMechanical signals transduced downstream of the LINC complex-mediated muscular dystrophies
Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science
Department of Molecular Genetics

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

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

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

ITALY

LAZIO
ROMA

ITALY

LOMBARDIA
MILANO

ITALY

PIEMONTE
TORINO

Funded by an IRDiRC memberGLUD1 as a potential target in Muscular Dystrophy
Università degli Studi di Torino
Dipartimento di Biotecnologie Molecolari e Scienze Della Vita

JAPAN

JAPAN
OSAKA

SPAIN

Cataluña
BARCELONA

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

SWEDEN

Region Stockholm
SOLNA

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

SWITZERLAND

Suisse Alémanique
SCHWERZENBACH

Development of novel stem cell-based models to study myogenesis
Bewegung und Gesundheit Departement Gesundheitswissenschaften und Technologie
Department of Health Sciences and Technology - Laboratory of Regenerative and Movement Biology

SWITZERLAND

Suisse Alémanique
ZÜRICH

Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

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

UNITED KINGDOM

Avon
BRISTOL

MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust

UNITED KINGDOM

South Yorkshire
SHEFFIELD

MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIn vivo role of the fibroblast in muscular dystrophy
Institution: Information not provided - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

CZECH REPUBLIC

Capital City Prague
PRAHA

Epilepsy genetics: To solve unsolvable cases with combined OMICs tools
University Hospital Motol
Department of Pediatric Neurology

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

FINLAND

Finland
HELSINKI

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDevelopment of a novel functional connectivity imager for early diagnosis of brain development disorders in newborns
Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI Paris)
Ecole Supérieure de Physique et de Chimie Industrielles de la ville de Paris (ESPCI Paris)

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

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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NORWAY

Østlandet
OSLO

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

NORWAY

Østlandet
SANDVIKA

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

PORTUGAL

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

SPAIN

Cataluña
BARCELONA

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
BARCELONA

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

SPAIN

Galicia
A CORUÑA

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

FRANCE

AUVERGNE-RHONE-ALPES
LYON

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberAnalysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS 
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

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

CANADA

Ontario
OTTAWA, ONTARIO

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

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

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

FRANCE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

FRANCE

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
CRÉTEIL

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberAn integrated translational program for neuromuscular disorders
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"

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

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

FRANCE

ILE-DE-FRANCE
GARCHES

Funded by an IRDiRC memberEarly identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

FRANCE

ILE-DE-FRANCE
PARIS

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"

FRANCE

PAYS DE LA LOIRE
NANTES

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)

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

ITALY

LAZIO
ROMA

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberUnraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberUnderstanding histopathological alterations in neuromuscular disorders by spatial transcriptomics
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

NORWAY

Østlandet
OSLO

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

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

Multicentric Research projects