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Progetti di ricerca
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Whole-body therapy for gm2 gangliosidoses
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis informs therapy in the GM1 and GM2 Gangliosidoses
Institution: Information not provided - US
FINLANDIA
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
GERMANIA
Hessen
HOCHHEIM
Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses
SphinCS Lyso gemeinnützige UG (Haftungsbeschränkt)
SphinCS GmbH
GERMANIA
Mecklenburg-Vorpommern
ROSTOCK
Biomarker for GM1/GM2-Gangliosidoses (BioGM1/BioGM2): An International, multicentre, epidemiological protocol
CENTOGENE GmbH
SPAGNA
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
SPAGNA
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
SPAGNA
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
SPAGNA
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
FRANCIA
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
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
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
SPAGNA
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
PORTOGALLO
NORTE
PORTO
Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTOGALLO
NORTE
PORTO
The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
SPAGNA
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
SPAGNA
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
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
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
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
SPAGNA
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
SPAGNA
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
SPAGNA
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
SPAGNA
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
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
ITALIA
LAZIO
ROMA
Programma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
REGNO UNITO; GRAN BRETAGNA
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
REGNO UNITO; GRAN BRETAGNA
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
SVEZIA
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SVIZZERA
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SVIZZERA
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
Progetti di ricerca multicentrici
- MetabERN coordinating Center
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Alzheimer Europe Office
- Max-Planck-Institut für Multidisziplinäre Naturwissenschaften
- Abteilung Molekulare Neurobiologie
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Oxford University Begbroke Science Park
- Zyoxel Limited
ITALIA
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ITALIA
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
ITALIA
VENETO
PADOVA
Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale
LUSSEMBURGO
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
GERMANIA
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
ITALIA
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
REGNO UNITO; GRAN BRETAGNA
Oxfordshire
BEGBROKE