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Research projects
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
FINLAND
Finland
HELSINKI
Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center
FRANCE
AUVERGNE-RHONE-ALPES
LYON
characterisation of CLN7, a new lysosomal protein involved in neuronal ceroid lipofuscinosis
Institut de Biologie et Chimie des Protéines
Bases Moléculaires et Structurales des Systèmes Infectieux
FRANCE
ILE-DE-FRANCE
PARIS
Characterization of the molecular and pathophysiological mechanisms involved in ceroid-lipofuscinoses
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"
ITALY
SICILIA
PALERMO
Targeting lipids in CLN8-associated NCL diseases: structural and functional interaction of CLN8 with vesicle-associated membrane protein-associated protein A (VAPA), and genotype-phenotype correlations
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Heriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Heriditary neurodegenerative storage disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Neurodegenerative lysosomal storage disorders
Institution: Information not provided - US
FINLAND
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
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)
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
PORTUGAL
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
PORTUGAL
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
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
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
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
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
SPAIN
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
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
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FINLAND
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
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
SWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
NORWAY
Østlandet
OSLO
Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier
NORWAY
Østlandet
SANDVIKA
Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser
PORTUGAL
SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
Multicentric Research projects
- UKE - Universitätsklinikum Hamburg-Eppendorf
- Arbeitsgruppe Degenerative Gehirnkrankheiten
- MetabERN coordinating Center
- UCL University College London
- MRC Laboratory for Molecular Cell Biology
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Alzheimer Europe Office
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
GERMANY
Hamburg
HAMBURG
DEM-CHILD: A Treatment-Oriented Research Project of NCL Disorders as a Major Cause of Dementia in Childhood
ITALY
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
UNITED KINGDOM
Greater London
LONDON
RNGC: Rare Neuronal ceroid lipofuscinosis Gene Consortium
FRANCE
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
ITALY
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
ITALY
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
ITALY
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
GERMANY
Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
UNITED KINGDOM
Greater London
LONDON