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Research projects
UNITED STATES
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
AUSTRIA
TIROL
INNSBRUCK
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
CANADA
Québec
MONTRÉAL
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CHUM Research Centre
Centre d'excellence en neuroscience de l'Université de Montréal
FINLAND
Finland
HELSINKI
Genetic causes of axon degeneration diseases axonal Charcot-Marie-Tooth neuropathy (CMT2) and hereditary spastic paraplegia
University of Helsinki
Stem Cells and Metabolism Research Program
FINLAND
Finland
HELSINKI
Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program
FINLAND
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FINLAND
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
FRANCE
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
GERMANY
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: Network for translational research on hereditary spastic paraplegia -coordination
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
GERMANY
Bayern
ERLANGEN
TreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Universitätsklinikum Erlangen - Kopfkliniken
Abteilung für Molekulare Neurologie
GERMANY
Bayern
REGENSBURG
TreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
medbo Bezirksklinikum Regensburg
Klinik und Poliklinik für Neurologie der Universität Regensburg
GERMANY
Nordrhein-Westfalen
ESSEN
TreatHSP-Net: Development and validation of patient- and reference person-oriented outcome parameters at HSP
Universitätsklinikum Essen
Klinik für Neurologie
GERMANY
Thüringen
JENA
TreatHSP-Net: Metabolomic investigations of selected mouse models for hereditary spastic paraplegia (HSP)
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik
ITALY
CAMPANIA
NAPOLI
Role of ER-phagy in motor neuron degeneration
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALY
LAZIO
ROMA
The HIPK2 kinase/spastin axis in Hereditary Spastic Paraplegia (HSP): functional roles and potential therapeutic applications
Consiglio Nazionale delle Ricerche
CNR
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
ITALY
VENETO
VERONA
Involvement of BMP signaling pathway in Hereditary Spastic Paraplegia: identification of new therapies based on in-vivo drug screening
Universitŕ degli Studi di Verona
Dipartimento di Biotecnologie
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
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigaçăo Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital Săo Sebastiăo
Serviço de Neurologia
SPAIN
Cataluńa
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
SPAIN
Cataluńa
BARCELONA
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluńa
Unidad de Investigación en Moléculas Bioactivas
SPAIN
Cataluńa
L'HOSPITALET DE LLOBREGAT
Improving diagnostic yield for hereditary spastic paraplegias and cerebellar ataxias with long-read genome, transcriptome, and functional genomics
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Instituto de Investigación Biomédica de Bellvitge
SPAIN
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
SPAIN
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
Modeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
SPAIN
Cataluńa
SABADELL
Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí
Laboratorio de Genética de la UDIAT-CD
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
Multicentric Research projects
- Friedrich-Baur-Institut
- Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik
- MetabERN coordinating Center
- Institut du Cerveau et de la Moelle épiničre (ICM) - Hôpital Pitié-Salpętričre
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Parc scientifique et technologiques de Luminy
- Trophos SA
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- IRCCS Ospedale San Raffaele
- Centro di Genomica, Bioinformatica e Biostatistica - Unitŕ di Genetica Umana e Molecolare
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Alzheimer Europe Office
- Haukeland University Hospital
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- Oxford University Begbroke Science Park
- Zyoxel Limited
GERMANY
Bayern
MÜNCHEN
TIRCON -Treat Iron-Related Childhood-Onset Neurodegeneration
ITALY
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
FRANCE
ILE-DE-FRANCE
PARIS
EUROSPA: European & Mediterranean network on spastic paraplegias
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
MITOTARGET: mitochondrial dysfunction in neurodegenerative diseases: towards new therapeutics
GERMANY
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: Network for translational research on hereditary spastic paraplegia
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
ITALY
LOMBARDIA
MILANO
SPASTICMODELS: genetic models of chronic neuronal degeneration causing hereditary spastic paraplegia
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence
NORWAY
Vestlandet
BERGEN
NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
UNITED KINGDOM
Oxfordshire
BEGBROKE