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Projets de recherche
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
Identifying new repeat expansions in autosomal dominant cerebellar ataxias
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
Identifying new repeat expansions in autosomal dominant cerebellar ataxias
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ESPAGNE
Cataluña
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
IRLANDE
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
PAYS-BAS
Zuid-Holland
LEIDEN
Investigating cell-specific pathology in Huntington's disease and spinocerebellar ataxia iPSC-derived brain assembloids before and after treatment with targeted antisense oligonucleotides
LUMC - Leids Universitair Medisch Centrum
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
PORTO
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva - IBMC
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Centro Hospitalar de Entre o Douro e Vouga, EPE - CHEDV, EPE
Serviço de Neurologia - CHEDV, EPE
ESPAGNE
Comunidad Valenciana
VALENCIA
Study of the impact of optical genomic mapping in the identification of structural variants for the diagnosis of rare diseases
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica
ETATS-UNIS
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
CANADA
Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology
ESPAGNE
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
ESPAGNE
Cataluña
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
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
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
ESPAGNE
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
ESPAGNE
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
FRANCE
ILE-DE-FRANCE
PARIS
La surexpression du gène de la neuroglobine : un outil prometteur pour traiter un large spectre de troubles neurologiques grâce à sa capacité à préserver de manière sûre et durable l'intégrité mitochondriale
Institut National de la Santé et de la Recherche Médicale
ITALIE
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ESPAGNE
Asturias
OVIEDO
The emergent pathogenic role for the intermediate CAG repeats in the HTT gene: from the neuropathological evidences to the molecular findings
Fundación para la Investigación Biosanitaria del Principado de Asturias
FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias
ESPAGNE
Cataluña
BARCELONA
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas
ESPAGNE
Cataluña
L'HOSPITALET DE LLOBREGAT
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPAGNE
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
FINLANDE
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
Projets de recherche multicentriques
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Alzheimer Europe Office
- Max-Planck-Institut für Multidisziplinäre Naturwissenschaften
- Abteilung Molekulare Neurobiologie
FRANCE
ILE-DE-FRANCE
PARIS
SPATAX: réseau européen des maladies héréditaires dégénératives spinocérébelleuses
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
ITALIE
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
ALLEMAGNE
Niedersachsen
GÖTTINGEN