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313 Resultado(s)

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Financiado por um membro do IRDiRC =

Projetos de investigação

ALEMANHA

Niedersachsen
GÖTTINGEN

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

CANADA

Alberta
EDMONTON

Financiado por um membro do 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

Financiado por um membro do 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

ESPANHA

Madrid
MADRID

Financiado por um membro do 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPrdm16 function in neural development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do 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

FRANCA

OCCITANIE
MONTPELLIER

ITALIA

FRIULI VENEZIA GIULIA
TRIESTE

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

ITALIA

LAZIO
FIUMICINO

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

ITALIA

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

ITALIA

LAZIO
ROMA

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

ITALIA

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

ITALIA

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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LOMBARDIA
CUSANO MILANINO

JAPAO

JAPAN
MIYAGI

Financiado por um membro do IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

SUECIA

Region Stockholm
HUDDINGE

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

SUICA

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

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

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

ALEMANHA

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

ALEMANHA

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

BELGICA

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

BELGICA

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

Financiado por um membro do 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

CHIPRE

Cyprus
ADDRESS: NOT PROVIDED - CY

Financiado por um membro do IRDiRCLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

ESPANHA

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

ESPANHA

Cataluña
BADALONA

Financiado por um membro do 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

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCTherapeutic modulation of MBNL genes as innovative treatments for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de Genómica Traslacional

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCPreclinical development of an innovative drug for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de Genómica Traslacional

ESPANHA

Madrid
MADRID

Financiado por um membro do 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

ESPANHA

Madrid
MADRID

Financiado por um membro do 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMuscle-specific regulation of pabpn1 expression
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMyonuclear homeostasis in craniofacial muscles
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRna toxicity and muscle regeneration
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

Financiado por um membro do 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

Financiado por um membro do IRDiRCMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do 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

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

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

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do 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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCiDM-scope: the international French-Quebec myotonic dystrophy registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do 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

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

OCCITANIE
MONTPELLIER

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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCriboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

HUNGRIA

Közép-Magyarország
BUDAPEST

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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Dipartimento di Medicina dei Sistemi

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
ASST Grande Ospedale Metropolitano Niguarda
Centro Clinico Nemo - sede di Milano - Centro ad alta specializzazione per le malattie neuromuscolari

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

JAPAO

JAPAN
AICHI

JAPAO

JAPAN
OSAKA

Financiado por um membro do IRDiRCEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

PAISES BAIXOS

Zuid-Holland
LEIDEN

Financiado por um membro do IRDiRCRNA processing role in muscle degeneration opens therapeutical options for adult myopathies
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

PORTUGAL

NORTE
PORTO

Desenvolvimento de terapias de splicing para doentes afectados por doenças de sobrecarga lisossomal
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

Inter-relações entre os mecanismos patogénicos das Doenças de Sobrecarga Lisosomal e a apresentação de antigénios lipídicos
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

PORTUGAL

NORTE
PORTO

Qual o papel da adenosina na disfunção de ambas as sinapses neuromusculares e imunológicas nos síndromes miasténicos?
Instituto de Ciências Biomédicas Abel Salazar
Unidade Multidisciplinar de Investigação Biomédica

SUECIA

Region Stockholm
HUDDINGE

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

ALEMANHA

Saarland
HOMBURG

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

AUSTRIA

WIEN
WIEN

Financiado por um membro do IRDiRCNeuroLSD: 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

ESPANHA

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

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

Financiado por um membro do 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPathological mechanisms of human cerebeller malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of epilepsy-related death in leigh syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject #4- therapeutic approaches to coq10 deficiencies
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSCD-Mec: Developmental mechanisms underlying human structural cerebellum defects
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCMuSK intracellular pathways in congenital myasthenic syndromes
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

ITALIA

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

PORTUGAL

NORTE
PORTO

Desenvolvimento de uma nova abordagem terapêutica para as Mucopolissacaridoses através da utilização da tecnologia de RNA de interferência (RNAi)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

REINO UNIDO

Cambridgeshire
ST NEOTS

REINO UNIDO

Greater London
LONDON

SUECIA

Region Västa Götaland
GÖTEBORG

ALEMANHA

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

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCNCL2TREAT: Network for neuronal ceroid lipofuscinoses (coordination)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

ALEMANHA

Hamburg
HAMBURG

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

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCEnzyme Enhancement Therapy for GM1 Gangliosidosis
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

CANADA

Québec
MONTRÉAL

CANADA

Québec
SHERBROOKE

Financiado por um membro do IRDiRCNOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

COREIA DO SUL

KOREA, REPUBLIC OF
SEOUL

ESPANHA

Andalucía
GRANADA

Financiado por um membro do IRDiRCDevelopment of a strategy of cell-gene therapy for treatment of Pompe disease
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

ESPANHA

Andalucía
GRANADA

Financiado por um membro do IRDiRCOptimization of genomic editing for its application to gene therapy of monogenic diseases
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

ESPANHA

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDevelopment of neurosteroids for lysosomal storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTreatment of acid ceramidase deficiency
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy platform for rare diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic and genomic analysis of niemann pick type c1 disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRegulation of subcellular organization in skeletal muscle
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCWhole-body therapy for gm2 gangliosidoses
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCUpregulation of iduronidase enzyme in mpsi disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOptimizing aav vectors for central nervous system transduction
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProgranulin: a novel gene in gaucher diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNewborn screening for mucopolysaccharidosis (mps1) pilot study
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCAcid sphingomyelinase and niemann-pick disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHeriditary neurodegenerative storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeurodegenerative lysosomal storage disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCAav mediated gene therapy to the cns for mps i
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of niemann-pick disease; type c
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuro-histology & behavior
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSb transposons for gene therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy for metabolic disorders
Institution: Information not provided - US

FRANCA

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

FRANCA

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

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

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

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

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

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCA

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

FRANCA

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

FRANCA

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

FRANCA

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

FRANCA

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

FRANCA

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"

FRANCA

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"

FRANCA

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

FRANCA

OCCITANIE
MONTPELLIER

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

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCAAV-mediated gene transfer in animal models of mucopolysaccharidosis VI
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALIA

CAMPANIA
NAPOLI

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

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

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

ITALIA

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

ITALIA

LAZIO
ROMA

Financiado por um membro do 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

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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCImproving 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

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

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

ITALIA

SICILIA
PALERMO

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

ITALIA

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

JAPAO

JAPAN
CHIBA

Financiado por um membro do IRDiRCPathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
Graduate School of Pharmaceutical Sciences, Chiba University
Laboratory of Chemical Pharmacology

JAPAO

JAPAN
KUMAMOTO

Financiado por um membro do IRDiRCDeveloping new drugs for Niemann-Pick disease type C
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Cell Modulation

JAPAO

JAPAN
KYOTO

Financiado por um membro do 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

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of Gene Therapy for Mucopolysaccharidosis Type II
The Jikei University School of Medicine
Division of Gene Therapy, Research Center for Medical Sciences

PORTUGAL

NORTE
PORTO

Doença de fabry - um estudo imunológico.
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

REINO UNIDO

Cambridgeshire
CAMBRIDGE

Financiado por um membro do IRDiRCGene Therapy for Tay-Sachs and Sandhoff diseases
University of Cambridge
Department of Medicine

SUECIA

Region Stockholm
HUDDINGE

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

SUICA

Suisse Romande
THÔNEX

Financiado por um membro do IRDiRCAnalysis of the french cohort of untreated patients with type 1 gaucher disease
Hôpital des Trois-Chêne HUG
Hôpital des Trois-Chêne

ALEMANHA

Hamburg
HAMBURG

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

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do 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

CANADA

Québec
MONTRÉAL

Financiado por um membro do 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

ESPANHA

Galicia
SANTIAGO DE COMPOSTELA

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCIn vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

PORTUGAL

NORTE
PORTO

Transporte de proteínas lisossomais por vias independentes à manose 6-fosfato: estudos moleculares, bioquímicos e funcionais
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

Projetos de investigação multicêntricos