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Terminated research projects = 
Funded by an IRDiRC member = 
Study involving ERN members in at least two Member States = 
Research projects
UNITED STATES
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
FRANCE
GRAND-EST
STRASBOURG
Retinis Pigmentosa: validation of the molecular diagnostic using next generation sequencing
CHU de Strasbourg - Hôpital Civil
Laboratoire de diagnostic génétique
FRANCE
GRAND-EST
STRASBOURG
Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCE
ILE-DE-FRANCE
PARIS
Epidemiological study in hereditary dystrophies of retina
Institut de la Vision
Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
FRANCE
ILE-DE-FRANCE
PARIS
Research of drugs and therapeutic targets for rare retinal dystrophies using cell models from patients
Institut de la Vision
Centre de Recherche Institut de la Vision
FRANCE
OCCITANIE
MONTPELLIER
Gene therapy of retinal dystrophy on human models: differentiation of patients iPS cells to retinal cells
CHU de Montpellier - Hôpital Saint-Eloi
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
GERMANY
Schleswig-Holstein
LÜBECK
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models -DE
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Institut für Humangenetik
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Mater Misericordiae Hospital
Department of Ophthalmology
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Royal Victoria Eye and Ear Hospital
Ophthalmology Research Department
IRELAND
County Dublin
DUBLIN
Target 5000: A Study of Inherited Retinal Degeneration
Trinity College Dublin
Smurfit Institute of Genetics
ITALY
CAMPANIA
NAPOLI
CRISPR/Cas9 microRNAs Editing as gene-independent therapeutic approach in Inherited Retinal Dystrophies (IRDs)
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALY
CAMPANIA
NAPOLI
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - IT
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
SPAIN
Andalucía
SEVILLA
Development of an integrative framework for personalized medicine in rare diseases: a multidisciplinary approach for diagnosis and gene discovery in inherited retinal dystrophies
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Genética humana y reproducción
SPAIN
Comunidad Valenciana
VALENCIA
The cell therapeutic strategy for hereditary retinal dystrophies in small and large animals: MERTK associated Retinitis pigmentosa
Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe
Fundación de la Comunidad Valenciana Centro de Investigación Príncipe Felipe (CIPF)
SPAIN
Murcia
EL PALMAR
Positioning and possibilities of fourth generation sequencing in the diagnosis of rare diseases
Hospital Clínico Universitario Virgen de la Arrixaca
Fundacion para la Formacion e Investigacion Sanitarias de la Region de Murcia
SPAIN
País Vasco
SAN SEBASTIÁN
Development of diagnostic algorithms in patients with hereditary retinal dystrophies of the Basque Country, based on the sequencing of a panel of genes (targeted NGS) and whole genome (WGS)
Instituto de Investigación Sanitaria Biogipuzkoa
Grupo de neurodegeneración sensorial
SWITZERLAND
Suisse Alémanique
BASEL
Genomics of inherited retinal diseases
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
FINLAND
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FINLAND
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
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
GERMANY
Nordrhein-Westfalen
BONN
IRELAND
County Dublin
DUBLIN
Exploration of theraputic strategies for ocular disorders
Trinity College Dublin
Smurfit Institute of Genetics
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
Asturias
OVIEDO
The emergent pathogenic role for the intermediate CAG repeats in the HTT gene: from the neuropathological evidences to the molecular findings
Instituto de Investigación Sanitaria del Principado de Asturias
FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias
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
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
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
SPAIN
Comunidad Valenciana
VALENCIA
Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de investigación en enfermedades raras neurodegenerativas
SPAIN
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biogipuzkoa
Grupo de Enfermedades Neuromusculares
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
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
Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
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 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 Enfermedades raras, mitocondriales y neuromusculares
CANADA
Ontario
TORONTO
Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - BE
Institution: Information not provided - BE
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - FR
Institution: Information not provided - FR
GERMANY
Nordrhein-Westfalen
BONN
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases - DE
Universitäts-Augenklinik Bonn
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -IT
Institution: Information not provided - IT
LITHUANIA
SAMOGITIA
ADDRESS: NOT PROVIDED - LT
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -LT
Institution: Information not provided - LT
POLAND
Kraków
ADDRESS: NOT PROVIDED - PL
SeeMyLife - Holistic mixed approaches to capture the real life of children with Rare Eye Diseases -PL
Institution: Information not provided - PL
Multicentric Research projects
- Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
- Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
- Institut de la Vision
- Centre d'Investigation Clinique (CIC) de l'hôpital des Quinze-Vingts
- MetabERN coordinating Center
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Alzheimer Europe Office
- Max-Planck-Institut für Multidisziplinäre Naturwissenschaften
- Abteilung Molekulare Neurobiologie
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- Institution: Information not provided - ES
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
- Institution: Information not provided - FR
BELGIUM
OOST-VLAANDEREN
GENT
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models
FRANCE
ILE-DE-FRANCE
PARIS
EVI-GENORET: functional genomics of the retina in health and disease (FINISHED)
ITALY
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence
GERMANY
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
GERMANY
Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
SPAIN
Madrid
ADDRESS: NOT PROVIDED - ES
E-Enerca: New E-Health Services For The European Reference Network On Rare Anaemias
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
EuroVisionNet: Slechtziendheid en Degeneratie: Een draaiboek voor onderzoek naar gezichtsvermogen in Europe (AFGEROND)
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR