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Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

TIROL
INNSBRUCK

Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

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CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberEmerging 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

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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

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FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberHereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

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GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatHSP-Net: Network for translational research on hereditary spastic paraplegia -coordination
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

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GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatHSP-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

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GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatHSP-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

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GERMANY

Bayern
ERLANGEN

Funded by an IRDiRC memberTreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Universitätsklinikum Erlangen - Kopfkliniken
Abteilung für Molekulare Neurologie

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GERMANY

Bayern
REGENSBURG

Funded by an IRDiRC memberTreatHSP-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

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GERMANY

Nordrhein-Westfalen
ESSEN

Funded by an IRDiRC memberTreatHSP-Net: Development and validation of patient- and reference person-oriented outcome parameters at HSP
Universitätsklinikum Essen
Klinik für Neurologie

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GERMANY

Thüringen
JENA

Funded by an IRDiRC memberTreatHSP-Net: Metabolomic investigations of selected mouse models for hereditary spastic paraplegia (HSP)
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

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ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberRole of ER-phagy in motor neuron degeneration
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

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ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe HIPK2 kinase/spastin axis in Hereditary Spastic Paraplegia (HSP): functional roles and potential therapeutic applications
Consiglio Nazionale delle Ricerche
CNR

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ITALY

VENETO
VERONA

Funded by an IRDiRC memberInvolvement 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

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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

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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

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PORTUGAL

NORTE
SANTA MARIA DA FEIRA

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital Săo Sebastiăo
Serviço de Neurologia

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SPAIN

Cataluńa
L'HOSPITALET DE LLOBREGAT

Funded by an IRDiRC memberImproving 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

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberModeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics

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FINLAND

Finland
OULU

Funded by an IRDiRC memberFINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu

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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

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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

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FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuroglobin 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

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ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare

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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

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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

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CANADA

Colombie-Britannique
VICTORIA

Funded by an IRDiRC memberSilent 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

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberBeyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification 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

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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Multicentric Research projects