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Research projects
IRELAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
NETHERLANDS
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US
ITALY
EMILIA ROMAGNA
MELDOLA
Integrated Multiomics and Multilevel Characterization of Haematological Disorders and Malignancies
IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori
IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori
UNITED STATES
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
SPAIN
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
SPAIN
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
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
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
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
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
SPAIN
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
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
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
SPAIN
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
SPAIN
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
SPAIN
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
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
Multicentric Research projects
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Institution: Information not provided - ES
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
GERMANY
Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
SPAIN
Madrid
ADDRESS: NOT PROVIDED - ES