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34 Ergebnis(se)
Abgeschlossene Forschungsprojekte = 
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Forschungsprojekt(e)
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
LEUKO-Expert: Diagnoseunterstützung für die Seltene Krankheiten aus der Familie der Leukodystrophien
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
LEUKO-Expert: Diagnoseunterstützung für die Seltene Krankheiten aus der Familie der Leukodystrophien
Universitätsklinikum Aachen
Klinik für Neurologie
DEUTSCHLAND
Nordrhein-Westfalen
BONN
NG4LEUKO: Untersuchung von Neuron-Glia-Wechselwirkungen bei Leukodystrophien unter Verwendung humaner iPSZ-basierter Modelle
Universitätsklinikum Bonn (AöR)
Institut für Rekonstruktive Neurobiologie
DEUTSCHLAND
Sachsen
LEIPZIG
LEUKO-Expert: Diagnoseunterstützung für die Seltene Krankheiten aus der Familie der Leukodystrophien
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Neurologie
FINNLAND
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
FINNLAND
Finland
OULU
Childhood-onset genetic brain white matter diseases - novel diseases as tools to study myelin formation, maintenance and demyelination
University of Oulu
Biocenter Oulu
FRANKREICH
ILE-DE-FRANCE
PARIS
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - FR
Institut de Psychiatrie et Neurosciences Paris (IPNP), Inserm UMR_S 1266
Equipe Interactions entre neurones et oligodendroglies dans la myélinisation et la réparation de la myéline
ITALIEN
LOMBARDIA
MILANO
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy - IT
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica
KANADA
Québec
MONTRÉAL
Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory
SPANIEN
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
SPANIEN
Madrid
MADRID
Investigation on hybrid molecules as powerful novel therapeutic approaches for Multiple Sclerosis and myelin- related rare diseases
Instituto Cajal (CSIC)
GNDe - Grupo de Neurobiología del Desarrollo
SPANIEN
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
FRANKREICH
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
ITALIEN
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
KANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
SPANIEN
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
SPANIEN
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
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est
Institut NeuroMyoGčne (INMG) - CNRS UMR 5310 / INSERM U1217
FRANKREICH
BOURGOGNE-FRANCHE-COMTE
DIJON
Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3
Laboratoire d'Economie de Dijon (LEDi)
KANADA
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
KANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPANIEN
Cataluńa
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
SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPANIEN
Cataluńa
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPANIEN
Cataluńa
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
SPANIEN
Cataluńa
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
SPANIEN
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
SPANIEN
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
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multizentrische Forschungsprojekte
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- VU - Vrije Universiteit, Faculteit Aard- en Levenswetenschappen
- CNCR - Center for Neurogenomics and Cognitive Research
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
FRANKREICH
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials
NIEDERLANDE
Noord-Holland
AMSTERDAM
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy
ITALIEN
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
ITALIEN
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NIEDERLANDE
Gelderland
NIJMEGEN