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Finanziato da un ente associato a IRDiRC =

Progetti di ricerca

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

CANADA

Alberta
EDMONTON

Finanziato da un ente associato a IRDiRCAutonomic 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

Finanziato da un ente associato a IRDiRCBiological 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

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

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

FRANCIA

OCCITANIE
MONTPELLIER

Finanziato da un ente associato a IRDiRCExploiting 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

FRANCIA

OCCITANIE
MONTPELLIER

GERMANIA

Niedersachsen
GÖTTINGEN

GIAPPONE

JAPAN
MIYAGI

Finanziato da un ente associato a IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

ITALIA

FRIULI VENEZIA GIULIA
TRIESTE

miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

ITALIA

LAZIO
FIUMICINO

La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALIA

LAZIO
ROMA

ITALIA

LAZIO
ROMA

Studio della delezione di KDM6A, un istone demetilasi che interagisce con MLL2, in tre pazienti affetti da Sindrome di Kabuki
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALIA

LAZIO
ROMA

Studio dell' associazione tra Sindrome di DiGeorge e sequenza displasia caudale in un neonato nato da madre diabetica
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALIA

LAZIO
ROMA

Caratterizzazione clinica e molecolare di sindromi genetiche con cardiopatie congenite
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCCellular 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPrdm16 function in neural development
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Region Stockholm
HUDDINGE

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

SVIZZERA

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

BELGIO

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

BELGIO

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

Finanziato da un ente associato a IRDiRCMotor, 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

CIPRO

Cyprus
ADDRESS: NOT PROVIDED - CY

Finanziato da un ente associato a IRDiRCLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a IRDiRCMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
HELSINKI

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

FINLANDIA

Finland
TAMPERE

Finanziato da un ente associato a IRDiRCMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Finanziato da un ente associato a IRDiRCVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCPreclinical 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

FRANCIA

ILE-DE-FRANCE
EVRY

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
EVRY

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCDM1 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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCIA

ILE-DE-FRANCE
PARIS

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCiDM-scope: the international French-Quebec myotonic dystrophy registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCPathophysiology 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

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Finanziato da un ente associato a IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCIA

OCCITANIE
MONTPELLIER

FRANCIA

OCCITANIE
MONTPELLIER

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

FRANCIA

OCCITANIE
MONTPELLIER

Finanziato da un ente associato a IRDiRCriboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCmitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCmitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Bayern
MÜNCHEN

Finanziato da un ente associato a IRDiRCmitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANIA

Niedersachsen
GÖTTINGEN

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

GERMANIA

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

GERMANIA

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

GIAPPONE

JAPAN
AICHI

GIAPPONE

JAPAN
OSAKA

Finanziato da un ente associato a IRDiRCEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCIdentificazione e caratterizzazione di geni nucleari responsabili di malattie mitocondriali umane
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

PAESI BASSI

Zuid-Holland
LEIDEN

Finanziato da un ente associato a IRDiRCRNA processing role in muscle degeneration opens therapeutical options for adult myopathies
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

PORTOGALLO

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

PORTOGALLO

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

PORTOGALLO

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

REGNO UNITO; GRAN BRETAGNA

Hampshire
SOUTHAMPTON

SPAGNA

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

SPAGNA

Cataluña
BADALONA

Finanziato da un ente associato a IRDiRCDIMINUTES, 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

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCTherapeutic 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

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCPreclinical development of an innovative drug for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en genómica traslacional

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCPersonalized 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

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCStudy 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMuscle-specific regulation of pabpn1 expression
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMyonuclear homeostasis in craniofacial muscles
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRna toxicity and muscle regeneration
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVEZIA

Region Stockholm
HUDDINGE

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

UNGHERIA

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

AUSTRIA

WIEN
WIEN

Finanziato da un ente associato a IRDiRCNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCSCD-Mec: Developmental mechanisms underlying human structural cerebellum defects
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCMuSK intracellular pathways in congenital myasthenic syndromes
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

GERMANIA

Saarland
HOMBURG

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

ITALIA

LOMBARDIA
MILANO

PORTOGALLO

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

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
ST NEOTS

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

SPAGNA

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

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

Finanziato da un ente associato a IRDiRCMolecular 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPathological mechanisms of human cerebeller malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of epilepsy-related death in leigh syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US

SVEZIA

Region Västra Götaland
GÖTEBORG

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

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCEnzyme Enhancement Therapy for GM1 Gangliosidosis
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

CANADA

Québec
SHERBROOKE

Finanziato da un ente associato a IRDiRCNOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

FRANCIA

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

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

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

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

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

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCIA

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

FRANCIA

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

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique

FRANCIA

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

FRANCIA

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"

FRANCIA

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"

FRANCIA

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

FRANCIA

OCCITANIE
MONTPELLIER

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

GERMANIA

Bayern
WÜRZBURG

MALTA-FABRY: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Universitätsklinikum Würzburg
ZESE - Zentrum für Seltene Erkrankungen (ZSE) - Referenzzentrum Nordbayern

GERMANIA

Berlin
BERLIN

Finanziato da un ente associato a IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCNCL2TREAT: Network for neuronal ceroid lipofuscinoses (coordination)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANIA

Hamburg
HAMBURG

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

GIAPPONE

JAPAN
CHIBA

Finanziato da un ente associato a IRDiRCPathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
Graduate School of Pharmaceutical Sciences, Chiba University
Laboratory of Chemical Pharmacology

GIAPPONE

JAPAN
KUMAMOTO

Finanziato da un ente associato a IRDiRCDeveloping new drugs for Niemann-Pick disease type C
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Cell Modulation

GIAPPONE

JAPAN
KYOTO

Finanziato da un ente associato a IRDiRCDevelopment of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
Kyoto University Graduate School of Medicine
Department of Anatomy and Developmental Biology

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCDevelopment of Gene Therapy for Mucopolysaccharidosis Type II
The Jikei University School of Medicine
Division of Gene Therapy, Research Center for Medical Sciences

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCTrasferimento genetico mediato da virus adeno-associati  in modelli animali di mucopolisaccaridosi VI
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALIA

CAMPANIA
NAPOLI

Identificazione di nuovi approcci terapeutici per le malattie lisosomiali
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

FRIULI VENEZIA GIULIA
UDINE

Studio del ruolo del ripiegamento proteico nella patogenesi della malattia di Niemann-Pick tipo C: un possibile target terapeutico
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALIA

FRIULI VENEZIA GIULIA
UDINE

Screening della malattia di Niemann Pick tipo C tra pazienti affetti con malattia psichiatrica con eziologia sconosciuta
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCTargeting 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

ITALIA

LIGURIA
GENOVA

Caratterizzazione molecolare di malattie genetico-metaboliche rare
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCMiglioramento dell'efficacia del trasferimento genetico nelle cellule staminali ematopoietiche
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

Arylsulfatase A over-expression in human hematopoietic cells for metachromatic leukodystrophy gene therapy: pre-clinical and clinical assessment
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

ITALIA

LOMBARDIA
SAN DONATO MILANESE

Effetto di Migalastat sul coinvolgimento cardiaco nella malattia di Fabry
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale

ITALIA

SICILIA
PALERMO

Studio delle alterazioni enzimatiche e genetiche nella malattia di Fabry a scopo di diagnosi
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze

ITALIA

TOSCANA
PISA

Studio dei meccanismi cellulari della malattia di Niemann-Pick di tipo C e identificazione di terapie neuroprotettive
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Area della Ricerca

PORTOGALLO

NORTE
PORTO

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

REGNO UNITO; GRAN BRETAGNA

Cambridgeshire
CAMBRIDGE

Finanziato da un ente associato a IRDiRCGene Therapy for Tay-Sachs and Sandhoff diseases
University of Cambridge
Department of Medicine

SPAGNA

Andalucía
GRANADA

Finanziato da un ente associato a IRDiRCDevelopment of a strategy of cell-gene therapy for treatment of Pompe disease
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAGNA

Andalucía
GRANADA

Finanziato da un ente associato a IRDiRCOptimization of genomic editing for its application to gene therapy of monogenic diseases
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAGNA

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCDevelopment of neurosteroids for lysosomal storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTreatment of acid ceramidase deficiency
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGene therapy platform for rare diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic and genomic analysis of niemann pick type c1 disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRegulation of subcellular organization in skeletal muscle
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCWhole-body therapy for gm2 gangliosidoses
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCUpregulation of iduronidase enzyme in mpsi disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCOptimizing aav vectors for central nervous system transduction
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProgranulin: a novel gene in gaucher diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNewborn screening for mucopolysaccharidosis (mps1) pilot study
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCAcid sphingomyelinase and niemann-pick disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHeriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHeriditary neurodegenerative storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeurodegenerative lysosomal storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCAav mediated gene therapy to the cns for mps i
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical investigations of niemann-pick disease; type c
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuro-histology & behavior
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCSb transposons for gene therapy
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGene therapy for metabolic disorders
Institution: Information not provided - US

SVEZIA

Region Stockholm
HUDDINGE

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

SVIZZERA

Suisse Romande
THÔNEX

Finanziato da un ente associato a IRDiRCAnalysis of the french cohort of untreated patients with type 1 gaucher disease
Hôpital des Trois-Chêne HUG
Hôpital des Trois-Chêne

CANADA

Québec
MONTRÉAL

Finanziato da un ente associato a IRDiRCMucopolysaccharidosis 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

FINLANDIA

Finland
HELSINKI

GERMANIA

Hamburg
HAMBURG

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

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCAn 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

PORTOGALLO

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

SPAGNA

Galicia
SANTIAGO DE COMPOSTELA

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCIn vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Progetti di ricerca multicentrici