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Funded by an IRDiRC member =

Research projects

GERMANY

Niedersachsen
GÖTTINGEN

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

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

AUSTRIA

WIEN
WIEN

Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie

BELGIUM

OOST-VLAANDEREN
GENT

SNAP: An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute
Ghent University Hospital - UZ Gent
CEMA - Centrum voor Erfelijke Metabole Aandoeningen

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberMolecular mechanisms of organelle inheritance
University of Alberta
Department of Cell Biology

CANADA

Colombie-Britannique
VANCOUVER

Application of Stable Isotopes to Determine Protein Requirements in Children with Phenylketonuria (PKU)
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Colombie-Britannique
VANCOUVER

Minimally Invasive 13C-Breath Test to Examine Phenylalanine Metabolism in Children with Phenylketonuria
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Ontario
TORONTO

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

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberThe Peroxisome Biogenesis Disorders: From Bench to Bedside
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill
Medical Genetics - Génétique Médicale

CANADA

Québec
MONTRÉAL

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberGetting Ready for Vision Therapy in Peroxisome Biogenesis Disorders
The Research Institute of the McGill University Health Centre

CANADA

Québec
MONTRÉAL

Longitudinal Natural History Study of Patients with Peroxisome Biogenesis Disorders (PBD)
The Research Institute of the McGill University Health Centre

CANADA

Québec
QUÉBEC

Development of a treatment for Friedreich ataxia based on the administration of a TALE driving the expression of frataxin.
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Laboratoire de Génétique Humaine

FINLAND

Finland
HELSINKI

Creatine transporter defect - a new syndrome with mental retardation
HUS - Helsinki University Hospital
Department of Clinical Genetics

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

BOURGOGNE-FRANCHE-COMTE
DIJON

Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

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

Clinical research on Refsum disease
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
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

Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

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
LE KREMLIN-BICÊTRE

Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
PARIS

Multidisciplinary Observational Study of Patients With Friedreich Ataxia
CHU Paris - Hôpital Robert Debré
Neurologie pédiatrique et maladies métaboliques

FRANCE

ILE-DE-FRANCE
PARIS

Psycho-cognitive forms of adult metachromatic leucodystrophies: phenotype-genotype relationships
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Association de la Recherche en NeuroChimie

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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Synthetic biology and Friedreich's Ataxia
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberFRACOL: Synthetic biology to approach Friedreich ataxia - FR
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberMitochondrial myopathies with mtDNA instability: the role of cristae maintenance
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

GERMANY

Baden-Württemberg
HEIDELBERG

Natural history study of patients with Succinic semialdehyde dehydrogenase (SSADH) deficiency
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Stoffwechsellabor

GERMANY

Baden-Württemberg
HEIDELBERG

Evaluation of a novel measuring method for the determination of phenylalanine concentrations in whole blood and a possible application for home monitoring
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

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

Saarland
HOMBURG

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

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

Molecular determinants of neurodegenerative diseases
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

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
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
Unità di Ricerca Clinica

ITALY

SARDEGNA
CAGLIARI

Study of phenotypic variability present in Wilson's disease
Ospedale Regionale per le Microcitemie
Laboratorio Epatopatie Genetiche

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
AICHI

Funded by an IRDiRC memberCreation of comprehensive clinical guidelines on kernicterus of preterm infants
Aichi Medical University School of Medicine
Department of Pediatrics

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
TOCHIGI

Funded by an IRDiRC memberClinical trial of gene therapy for AADC deficiency
Jichi Medical University
Department of Pediatrics

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

NETHERLANDS

Noord-Holland
AMSTERDAM

Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

SPAIN

Andalucía
SEVILLA

Braincure: therapy for neurodegeneration with brain iron accumulation
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología

SPAIN

Cataluña
BARCELONA

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric aciduria type 1 in Gcdh -1- mice
Fundació Clínic per a la Recerca Biomèdica
Grupo Terapia génica y cáncer

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
ESPLUGUES DE LLOBREGAT

Connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model
Hospital Sant Joan de Déu Barcelona
Instituto Pediátrico de Enfermedades Raras

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Comunidad Valenciana
VALENCIA

Phosphodiesterase inhibitors as a treatment for Friedreich's ataxia
Universitat de València. Facultat de Medicina i Odontologia
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo y las enfermedades raras

SPAIN

Comunidad Valenciana
VALENCIA

Genomic edition of the FXN Gene through the CRISPR / Cas9 system in lymphocytes of patients with Friedreich's ataxia
Universitat de València. Facultat de Medicina i Odontologia
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo y las enfermedades raras

SPAIN

Madrid
MADRID

Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia - ES
Hospital General Universitario Gregorio Marañón
Servicio de Oftalmología

SPAIN

Madrid
MADRID

SWEDEN

Stockholms läns landsting
HUDDINGE

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

SWEDEN

Stockholms läns landsting
HUDDINGE

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

UNITED KINGDOM

Greater London
LONDON

Longitudinal Analysis of the Natural History of Friedreich's Ataxia
UCL Institute of Neurology, University College London,
Clinical Neurosciences

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EUROWILSON: European network on Wilson disease (coordination)
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberAberrant mitochondrial redox regulation in Friedreich's Ataxia
Sanford Research/University of South Dakota
VITIELLO LAB- Depatment of Pediatrics

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 memberPeroxisome biogenesis disorders (pbds)
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberLum-001 as a treatment for creatine transporter 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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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 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

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 memberOptimizing aav vectors for central nervous system transduction
Institution: Information 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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDisorders of copper transport
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 memberInherited disorders of copper transport
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 memberInborn errors of cholesterol synthesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian iron-sulfur cluster biogenesis
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 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 memberGene therapy for metabolic disorders
Institution: Information 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

UNITED STATES

Washington
ADDRESS: 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

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

NORMANDIE
ROUEN

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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

ISRAEL

ISRAEL
ADDRESS: NOT PROVIDED - IL

Funded by an IRDiRC memberZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

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
MILANO

Funded by an IRDiRC memberImplementation of human neuronal cultures and mouse models of Pantothenate kinase 2 deficiency to investigate pathogenic mechanisms of iron-related neurodegeneration and evaluate Coenzyme A therapeutic efficacy
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALY

TOSCANA
SIENA

Preclinical testing of PNP inhibitors analogues of Immucillin-G for therapy of Lesh-Nyhan disease: preliminary in vitro studies
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

SPAIN

Castilla - León
SALAMANCA

Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
Instituto de Biología Funcional y Genómica (USAL-CSIC)
Bioenergética y estrés oxidativo del sistema nervioso

SPAIN

Comunidad Valenciana
VALENCIA

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) - ES
Complejo Hospitalario Universitario de Santiago
Departamento de Pediatría

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UNITED STATES

South Dakota
SOUTH DAKOTA

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
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 memberWhole-body therapy for gm2 gangliosidoses
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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

GERMANY

Niedersachsen
GÖTTINGEN

AAV-mediated gene therapy for molybdenum cofactor deficiency type B
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
BONN

Funded by an IRDiRC memberNCL2TREAT: Pathogenetic mechanisms in CLN6
Medizinische Fakultät der Universität Bonn
Institut für Biochemie und Molekularbiologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular mechanism of leukocyte migration in Leukocyte adhesion deficiendy type II
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

JAPAN

JAPAN
HYOGO

Funded by an IRDiRC memberDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

SPAIN

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

SPAIN

Madrid
CANTOBLANCO

Development of chaperone pharmacological therapy for PMM2-congenital disorder of glycosylation
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects