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Funded by an IRDiRC member =

Research projects

AUSTRIA

STEIERMARK
GRAZ

Connectivity in cerebral microangiopathy
Medizinische Universität Graz
Universitätsklinik für Neurologie

ITALY

TRENTINO ALTO ADIGE
TRENTO

JAPAN

JAPAN
GIFU

Funded by an IRDiRC memberClinical and basic research, evidence-based medicine for idiopathic basal ganglia calcification
Gifu Pharmaceutical University
Medical Therapeutics and Molecular Therapeutics

JAPAN

JAPAN
NAGASAKI

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

Risk factors, physiological brain alterations and treatment outcomes of CADASIL patients
Karolinska Institutet - Huddinge
Department of Neurobiology, Care Sciences and Society

SWEDEN

Stockholms läns landsting
STOCKHOLM

The role of Notch signalling in vascular smooth muscle cell development and pathology of CADASIL
Karolinska Institutet - Solna
Department of Cell and Molecular Biology

UNITED STATES

South Dakota
SIOUX FALLS

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberStructural biology of amyloid and amyloid-like proteins
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting vesicular transport pathways in prion disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe cell biology of neurodegeneration caused by the prion protein
Institution: Information not provided - US

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

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

BELGIUM

HAINAUT
GOSSELIES

Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort - BE
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberTherapeutic role of ganglioside GM1 in Huntington's disease
University of Alberta
Department of Pharmacology

CANADA

Colombie-Britannique
VANCOUVER

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberAltered balance of synaptic/extrasynaptic NMDA receptor signaling in Huntington disease
University of British Columbia
Centre for Huntington Disease- UBC Hospital

CANADA

Ontario
HAMILTON

Funded by an IRDiRC memberElucidating the Protective Mechanism of Phospho-N17 Huntingtin in Huntington's disease
McMaster University
Biochemistry and Biomedical Sciences

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberEpiHD: Role of epigenetic mechanisms in Huntington's disease - FR
Faculté de Psychologie de Strasbourg
Laboratoire de Neurosciences Cognitives et Adaptatives (LNCA) - UMR 7364 / Université de Strasbourg / CNRS

FRANCE

ILE-DE-FRANCE
EVRY

STEM-HD: technological resources for mass cell production and culture of hES in Huntington's disease
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
EVRY

STEM-HD: embryonic stem cells for therapy and exploration of mechanisms in Huntington disease (coordination)
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

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

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

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

Development of therapeutic strategies for human degenerative diseases
Centre Paul Broca
Biologie et pathologie du neurone

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

ILE-DE-FRANCE
PARIS

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

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberParkington: Translational validation of neural organoid grafts for treating Parkinson's and Huntington diseases - FR
Université Bordeaux 2 - Victor Ségalen
Institut des Maladies Neurodégénératives (IMN) - CNRS UMR 5293

FRANCE

OCCITANIE
MONTPELLIER

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberBehavioral disorders in Huntington's disease: Analysis and valorization of the expertise of the patients and their caregivers
Université d'Angers
Laboratoire de Psychologie des Pays de la Loire (UPRES EA 4638)

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Baden-Württemberg
TÜBINGEN

Characterization and behavioural consequences of alpha-Synucleinopathies in transgenic mice
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurodegeneration - Funktionelle Neurogenetik

GERMANY

Bayern
MÜNCHEN

GERMANY

Bayern
MÜNCHEN

Dominantly Inherited Alzheimer Network (DIAN) - DE
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Kognitive Neurologie - Neurologische Klinik und Poliklinik

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

ITALY

EMILIA ROMAGNA
BOLOGNA

Enroll-HD - A Prospective Registry Study in a Global HD Cohort - IT
Università di Bologna - Istituto di Clinica Neurologica
Laboratorio di Neurogenetica

ITALY

LAZIO
ROMA

Analysis of apoptosis in neurodegenerative diseases by apaf1 conditional mutagenesis (terminated)
Università degli Studi di Roma Tor Vergata
Laboratorio di Genetica delle Popolazioni

ITALY

LOMBARDIA
BRESCIA

DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration
IRCCS Centro S.Giovanni di Dio - Fatebenefratelli
IRCCS Fatebenefratelli

ITALY

LOMBARDIA
MILANO

DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Dipartimento Malattie Neurodegenerative

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

LOMBARDIA
MILANO

Funded by an IRDiRC memberTargeting neurons with cholesterol. How can it change the future of Huntington Disease patients
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Dipartimento di Bioscienze

ITALY

PUGLIA
FOGGIA

DIAN - Italian Network for autosomal dominant Alzheimer's disease and frontotemporal lobal degeneration
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Dipartimento di Scienze Biomediche

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

ITALY

TRENTINO ALTO ADIGE
TRENTO

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberMitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer's disease
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Scienze Biomediche

JAPAN

JAPAN
KYOTO

JAPAN

JAPAN
NIIGATA

Funded by an IRDiRC memberSearch for new therapeutic seeds of CARASIL targeting TGF-beta signal
Brain Research Institute, Niigata University
Department of Neurology

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

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

PORTUGAL

CENTRO
COIMBRA

Analysis of transcription deregulation in brain and peripheral Huntington disease models - influence of modulating histone deacetylases.
Centro de Neurociências da Universidade de Coimbra
Grupo de Disfunção Mitocondrial e Morte Celular

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
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

Comunidad Valenciana
VALENCIA

Therapeutic strategy against Huntington disease through synergistic activation of AMPK
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTherapeutic mechanisms and strategies in Huntington's disease using metformin and salicylate
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Madrid
MADRID

Visualization of the neuronal polysome architecture and its alterations in Huntington's disease
Centro Nacional de Biotecnología (CNB-CSIC)
Estudios estructurales por tomografía electrónica y procesamiento de imagen

SWEDEN

Skane
LUND

BAGADILICO: Hypothalamic changes and biomarkers in Huntington's disease
Lund University
Department of Experimental Medical Science

SWEDEN

Stockholms läns landsting
HUDDINGE

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

SWEDEN

Stockholms läns landsting
HUDDINGE

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

SWITZERLAND

Suisse Romande
LAUSANNE

Toward gene repair for Huntington's disease
Centre Hospitalier Universitaire Vaudois CHUV
Laboratoire des neurothérapies et neuromodulation

SWITZERLAND

Suisse Romande
LAUSANNE

UNITED KINGDOM

Cardiff
CARDIFF

UNITED STATES

Arizona
PHOENIX

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNanocarriers designed to deliver nucleic acids to brain
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic pathology and therapy in huntington's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberExtrinsic mechanisms governing injury-induced axon degeneration
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 memberThe role of clusterin in cerebral amyloid angiopathy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCortical pathophysiology in mouse models of huntington's 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 memberGenetic correction of mutant huntingtin in vivo
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHuntington's disease: a novel developmental oligodendrogliopathy
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 memberRhes-sumo circuitry in huntington's disease pathogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberStructure of triplet repeat mrna in neurodegenerative disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of copper in cerebral amyloid angiopathy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCombination treatment with vepoloxamer and tpa for acute stroke
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCrmp2; mitochondria; and huntington's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberControl of excitatory synapse formation by huntingtin
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberN-terminal huntingtin and huntington disease neuropathology
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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

BOURGOGNE-FRANCHE-COMTE
DIJON

Funded by an IRDiRC memberDEMENTIA : Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments - FR
Faculté des Sciences de Santé
Institut de Chimie Moléculaire de l'Université de Bourgogne (ICMUB) - CNRS 6302

FRANCE

ILE-DE-FRANCE
FONTENAY-AUX-ROSES

NEUROPRION: European network dedicated to research on prion diseases (coordination)
CEA - Commissariat à l'Energie Atomique
Service d'étude des prions et des infections atypiques

FRANCE

ILE-DE-FRANCE
PARIS

DFT-MND: frontotemporal dementia associated with motoneurone disease, integrated clinicogenetics study
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

OCCITANIE
MONTPELLIER

Normal and pathological function of the prion protein
Institut de Recherches en Biothérapie (IRB)
Laboratoire de Biochimie - Plate-forme Régionale de Protéomique Clinique

GERMANY

Nordrhein-Westfalen
BONN

DESCRIBE-FTD - Clinical Registry Study on Frontotemporal Dementia (FTD)
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.

IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberBRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases - IE
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberRole of intracellular trafficking in the pathogenesis of inherited prion diseases
Azienda Ospedaliera Universitaria "Federico II"
Dipartimento di Biologia e Patologia cellulare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberSurveillance of Creuzfeldt-Jakob disease and related disorders
ISS - Istituto Superiore di Sanità
Dipartimento di Biologia Cellulare e Neuroscienze

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)

PORTUGAL

SUL
FARO

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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInvestigating disease mechanisms in c9orf72-linked als/ftd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic editing of mutant c9orf72
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 memberNucleocytoplasmic transport and nuclear pore disruption in als/ftd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRole of c9orf72 in neurodegeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPrefrontal ampa receptors in ftd pathogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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 memberOligodendroglial dysfunction in c9orf72 als and ftd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFg-nucleoporins and nuclear transport disruption in c9orf72-als/ftd
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

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

GERMANY

Nordrhein-Westfalen
BONN

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

IRELAND

County Dublin
DUBLIN

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

PORTUGAL

NORTE
PORTO

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
SANTA MARIA DA FEIRA

UNITED KINGDOM

Greater London
LONDON

Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium

UNITED KINGDOM

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: aberrant neuronal activity and tau distribution in ftd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: autophagy dysfunction and neuronal activity in ftd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Study of proliferative and regenerative potential of the photoreceptors in a SCA7 mouse model, a disease by polyglutamine expansion
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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

BIOSCA:Biomarkers in Autosomal Dominant Cerebellar Ataxia
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
UF de Neurogénétique Moléculaire et Cellulaire

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

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberSCA-CYP: Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1) (partner No 3)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Hessen
FRANKFURT AM MAIN

GERMANY

Hessen
FRANKFURT AM MAIN

CAG102-knock-in model for spinocerebellar ataxia type 2
Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
Klinik für Neurologie

GERMANY

Nordrhein-Westfalen
BONN

ITALY

LAZIO
ROMA

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

LOMBARDIA
MILANO

Funded by an IRDiRC memberA drosophila model to study the neurodegenerative disease Dentatorubral-pallidoluysian atrophy
IRCCS Ospedale San Raffaele
Divisione di Genetica e Biologia Cellulare - Dipartimento di Genomica Funzionale

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberExcitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

JAPAN

JAPAN
NIIGATA

Funded by an IRDiRC memberDevelopment of therapeutic strategy for DRPLA based on gene silencing and genome editing.
Brain Research Institute, Niigata University
Department of Neurology

JAPAN

JAPAN
OSAKA

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDeveloping antisense ol igonucleotide therapy targeting bidirectional transcription underlying an inherited neurodegenerative disease.
Tokyo Medical and Dental University Medical Hospital
Center for Personalized Medicine for Healthy Aging

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberGene therapy against SCA1 based on the molecular pathomechanism
Tokyo Medical and Dental University Medical Research Institute
Department of Neuropathology

NETHERLANDS

Utrecht
ADDRESS: NOT PROVIDED - NL

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTUGAL

CENTRO
BRAGA

PORTUGAL

CENTRO
COIMBRA

The role of calpain-mediated proteolysis of ataxin-3 in Machado-Joseph disease: a molecular therapy approach with viral vectors.
Centro de Neurociências da Universidade de Coimbra
Departmento de vectores e terapia génica

PORTUGAL

CENTRO
COIMBRA

Regulation by phosphorylation of ataxin-3, the mutated protein in Machado Joseph Disease
Centro de Neurociências da Universidade de Coimbra
Glutamatergic Synapses: Formation and regulation of synapses

PORTUGAL

NORTE
PORTO

A peptide aptamer-based approach to neurodegenerative disorders.
Instituto de Biologia Molecular e Celular
Protein Crystallography Group

PORTUGAL

NORTE
PORTO

CACNA1A gene involvement in cognition and synaptic function in calcium channel disease.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

The role of an atrophin-brakeless protein complex in gene regulation and neurodegeneration in particularly
Stockholm University
Department of Molecular Biosciences, The Wenner-Gren Institute (MBW)

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

Funded by an IRDiRC memberNatural history of spinocerebellar ataxia type 7 (sca7)
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 memberMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

ITALY

LOMBARDIA
MILANO

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

Multicentric Research projects