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Research projects
CANADA
Québec
MONTRÉAL
Clinical, radiological and genetic characterization of new forms of leukodystrophies
Montreal Children's Hospital Research Institute - McGill University
Pediatric Neurodegenerative Laboratory
FINLAND
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
FRANCE
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
GERMANY
Baden-Württemberg
TÜBINGEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Nordrhein-Westfalen
AACHEN
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Aachen
Klinik für Neurologie
GERMANY
Nordrhein-Westfalen
BONN
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy -DE
Universitätsklinikum Bonn (AöR)
Institut für Rekonstruktive Neurobiologie
GERMANY
Sachsen
LEIPZIG
LEUKO-Expert: Diagnosis Support for the Rare Disease Family Leukodystrophy
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Neurologie
ITALY
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
SPAIN
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
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
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
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
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
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
FRANCE
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 NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCE
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)
SPAIN
Cataluña
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
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- 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
- Haukeland University Hospital
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
LEUKOTREAT: therapeutic challenge in leukodystrophies: translational and ethical research towards clinical trials
NETHERLANDS
Noord-Holland
AMSTERDAM
NG4LEUKO: Exploring neuron-glia interactions in leukodystrophies using human iPSC-based models: implication for therapy
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
NORWAY
Vestlandet
BERGEN
NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES