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Funded by an IRDiRC member = Member of a ERN =

Research projects

GERMANY

Niedersachsen
GÖTTINGEN

NETHERLANDS

Zuid-Holland
ROTTERDAM

Disturbed breathing in craniofacial disorders
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

AUSTRIA

WIEN
WIEN

Epigenetic control of brain wiring: role of miRNAs in FASD (fetal alcohol syndrome)
Medizinische Universität Wien
Universitätsklinik für Radiologie und Nuklearmedizin

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberAutonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Alberta
EDMONTON

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberBiological mechanisms contributing to increased risk of facial clefting
University of British Columbia
Department of Oral Health Sciences

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Research for one gene involved in Goldenhar syndrome
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberExploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Equipe Maladies Génétiques de l'Enfant et de l'Adulte

FRANCE

OCCITANIE
MONTPELLIER

GERMANY

Bayern
ERLANGEN

Test Quality of the Biographical Screening Interview for FASD
Universitätsklinikum Erlangen - Kopfkliniken
Psychiatrische und Psychotherapeutische Klinik

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

ITALY

LAZIO
FIUMICINO

Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALY

LAZIO
ROMA

Deletion of KDM6A a histone demethylase interacting with MLL2 in Three patients with Kabuki Syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
S.S. di Genetica Medica

ITALY

LAZIO
ROMA

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
CUSANO MILANINO

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
TOKYO

Funded by an IRDiRC memberExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

NETHERLANDS

Noord-Holland
AMSTERDAM

Causes of Cornelia de Lange Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

SPAIN

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberMinority diseases causing basal ganglia degeneration in pediatrics: combined implementation of genomic and biomarker analysis
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

SPAIN

Cataluña
SABADELL

Funded by an IRDiRC memberEffect of growth hormone treatment on brain connectivity and the structure of areas related to muscle tone in adults with Prader-Willi syndrome
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberCellular ageing associated with early exposure to stressful events in 22q11.2 deletion syndrome
Hospital General Universitario Gregorio Marañón
Servicio de Psiquiatría del Niño y del Adolescente

SWEDEN

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

SWEDEN

Region Stockholm
STOCKHOLM

SWITZERLAND

Suisse Alémanique
BASEL

Neural Network to Calculate Morphology of the Cleft Palate to Reduce Cleft Lip and Palate Treatment Burden
Universitätsspital Basel
Klinik für Mund-, Kiefer- und Gesichtschirurgie Lippen-Kiefer-Gaumenspalten

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPrdm16 function in neural development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDiabetic pregnancies and gastrulation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic mechanisms in diabetic embryopathy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInborn errors of cholesterol synthesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian developmental genetics and stem cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 5: characterization of social phenotype
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject I: molecular etiology of structural birth defects in cdls
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

Funded by an IRDiRC memberNipbl, cohesin and related structural birth defects
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular etiology of structural birth defects in cdls
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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

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

Funded by an IRDiRC memberMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
HELSINKI

Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
TAMPERE

Funded by an IRDiRC memberMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

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
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

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 memberPathophysiology of congenital muscle weakness linked to abnormal neuromuscular excitability
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Institut du Cerveau et de la Moëlle épinière - INSERM U1127

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCE

OCCITANIE
MONTPELLIER

FRANCE

OCCITANIE
MONTPELLIER

New therapeutic strategies development for oculopahryngeal muscular dystrophy using a drosophila model
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberriboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberRole of oxidative stress and endoplasmic reticulum stress in OPMD: molecular mechanisms and pharmacological treatments.
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

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

GERMANY

Sachsen
DRESDEN

Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Sachsen
DRESDEN

TRR 237 - Nucleic Acid Immunity: Phenotypic and genetic dissection of type I interferonopathies (B21)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik 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

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

JAPAN

JAPAN
AICHI

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

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberRNA processing role in muscle degeneration opens therapeutical options for adult myopathies
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

PORTUGAL

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

PORTUGAL

NORTE
PORTO

Role of adenosine in the dysfunction of both immunological and neuromuscular synapses in myasthenic syndromes.
Instituto de Ciências Biomédicas Abel Salazar
Unidade Multidisciplinar de Investigação Biomédica

SPAIN

Andalucía
SEVILLA

New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
CABIMER - Centro Andaluz de Biología Molecular y Medicina Regenerativa
Reparación de cortes de doble cadena en el DNA

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

Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana

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

Madrid
MADRID

Funded by an IRDiRC memberPersonalized mitochondrial disease medicine: from genetic diagnosis to drug discovery through the use of suppressor genes as pharmacological targets
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberStudy of the therapeutic potential of physical exercise in mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

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

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMuscle-specific regulation of pabpn1 expression
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMyonuclear homeostasis in craniofacial muscles
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

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSCD-Mec: Developmental mechanisms underlying human structural cerebellum defects
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberMuSK intracellular pathways in congenital myasthenic syndromes
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

ITALY

LOMBARDIA
MILANO

Joubert syndrome and other genetic cerebellar malformations. In vivo analysis in animal models
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale

JAPAN

JAPAN
TOKYO

PORTUGAL

NORTE
PORTO

Less is more _ Substrate Reduction Rherapy for Mucopolysaccharidoses through RNAi
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

SPAIN

Cataluña
BARCELONA

Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

SPAIN

Cataluña
ESPLUGUES DE LLOBREGAT

Funded by an IRDiRC memberMolecular diagnosis of mitochondrial oxidative phosphorylation defects: pathogenesis of CoQ10 deficiencies
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial

SWEDEN

Region Västra Götaland
GÖTEBORG

UNITED KINGDOM

Cambridgeshire
ST NEOTS

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathological mechanisms of human cerebeller malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of epilepsy-related death in leigh syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: 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 memberTherapeutic approaches in cell models of mitochondrial diseases
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 memberProject #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

The Role of Microglia in Neuronal Ceroid Lipofuscinosis
IST Austria
Institute of Science and Technology Austria

AUSTRIA

STEIERMARK
GRAZ

MPS VI Clinical Surveillance Program (CSP) - AT
Medizinische Universität Graz
Klinische Abteilung für Allgemeine Pädiatrie

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Loss of MMP12 in LAL-D and cardiometabolic disease
Institution: Information not provided - AT

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberEnzyme Enhancement Therapy for GM1 Gangliosidosis
Hospital for Sick Children, Research Institute

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
MONTRÉAL

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

FRANCE

AUVERGNE-RHONE-ALPES
LYON

characterisation of CLN7, a new lysosomal protein involved in neuronal ceroid lipofuscinosis
Institut de Biologie et Chimie des Protéines
Bases Moléculaires et Structurales des Systèmes Infectieux

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
LE KREMLIN-BICÊTRE

Gene therapy for metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of Metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Preclinical longitudinal neuroimaging studies for gene therapy in metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
PARIS

Psycho-cognitive forms of adult metachromatic leucodystrophies: phenotype-genotype relationships
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Association de la Recherche en NeuroChimie

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

Optimization of the metachromatic leukodystrophy gene therapy clinical protocol with an improved AAV10-ARSA vector: tolerance and efficacy in vivo before AFSSAPS submission
Faculté de Sciences Pharmaceutiques et Biologiques
Génétique et biothérapie des maladies dégénératives et prolifératives du système nerveux - INSERM UMR 745

FRANCE

ILE-DE-FRANCE
PARIS

Characterization of the molecular and pathophysiological mechanisms involved in ceroid-lipofuscinoses
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"

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

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

BRAINCAV: nonhuman adenovirus vectors for gene transfer to the brain (coordination)
Institut de génétique moléculaire
Institut de Génétique Moléculaire de Montpellier

GERMANY

Berlin
BERLIN

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

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberNCL2TREAT: Network for neuronal ceroid lipofuscinoses (coordination)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hamburg
HAMBURG

Mucopolysaccharidosis type 6 Clinical Surveillance Program - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberAAV-mediated gene transfer in animal models of mucopolysaccharidosis VI
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

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

FRIULI VENEZIA GIULIA
UDINE

Role of protein misfolding in the pathogenesis of Niemann-Pick type C disease: a possible therapeutic target
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALY

FRIULI VENEZIA GIULIA
UDINE

Screening of Niemann Pick type C among patients affected with psychiatric disease of unknown ethiology
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberTargeting adenosine tone in Niemann Pick type C Disease
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci

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
MILANO

Funded by an IRDiRC memberImproving efficacy of gene transfer into hematopoietic stem cells
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALY

LOMBARDIA
MILANO

Over espressione di arilsulfatasi A in cellule ematopoietiche umane: terapia genica per la leucodistrofia metacromatica.
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALY

LOMBARDIA
MILANO

Produzione vettori per la terapia genica (Sindrome di Wiskott-Aldrich e Leucodistrofia Metacromatica)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

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

ITALY

TOSCANA
PISA

Study of cellular mechanisms of neuronal dysfunction in Niemann Pick type C disease and identification of neuroprotective therapies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Area della Ricerca

JAPAN

JAPAN
CHIBA

Funded by an IRDiRC memberPathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
Graduate School of Pharmaceutical Sciences, Chiba University
Laboratory of Chemical Pharmacology

JAPAN

JAPAN
KUMAMOTO

Funded by an IRDiRC memberDeveloping new drugs for Niemann-Pick disease type C
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Cell Modulation

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
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

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

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
BARCELONA

Corrective therapy of splicing by antisense oligonucleotides for Niemann-Pick disease type C: pre-clinical study in a murine model
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana

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

SWEDEN

Region Stockholm
HUDDINGE

Clinical and experimental research regarding allogeneic hematopoietic stem cell transplantation
Karolinska Institutet - Huddinge
Department of laboratory medicine

SWITZERLAND

Suisse Romande
THÔNEX

Funded by an IRDiRC memberAnalysis of the french cohort of untreated patients with type 1 gaucher disease
Hôpital des Trois-Chêne HUG
Hôpital des Trois-Chêne

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberGene Therapy for Tay-Sachs and Sandhoff diseases
University of Cambridge
Department of Medicine

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 memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDevelopment of neurosteroids for lysosomal storage disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTreatment of acid ceramidase deficiency
Institution: Information 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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic and genomic analysis of niemann pick type c1 disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
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

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

Funded by an IRDiRC memberWhole-body therapy for gm2 gangliosidoses
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberUpregulation of iduronidase enzyme in mpsi disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOptimizing aav vectors for central nervous system transduction
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProgranulin: a novel gene in gaucher diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNewborn screening for mucopolysaccharidosis (mps1) pilot study
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAcid sphingomyelinase and niemann-pick disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHeriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHeriditary neurodegenerative storage disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeurodegenerative lysosomal storage disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAav mediated gene therapy to the cns for mps i
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical investigations of niemann-pick disease; type c
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuro-histology & behavior
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSb transposons for gene therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGene therapy for metabolic disorders
Institution: Information not provided - US

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberMucopolysaccharidosis IIIC as a protein folding disease: using animal models to study pathophysiology and explore potential therapeutic solutions
Centre hospitalier universitaire Sainte-Justine
Department of Medical Genetics / Département de génétique médicale

FINLAND

Finland
HELSINKI

GERMANY

Hamburg
HAMBURG

A prospective, observational study of Mucopolysaccharidosis type 3B - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Hamburg
HAMBURG

Funded by an IRDiRC memberAn observational, prospective, multicenter, natural history study of patients with Mucopolysaccharidosis type 3A (Sanfilippo syndrome type A) - DE
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

PORTUGAL

NORTE
PORTO

The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) - ES
Hospital Clínico Universitario de Santiago
Servicio de Pediatría

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuro-ophthalmic mechanisms of disease
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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects