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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
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
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
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
GERMANY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
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
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - ES
Centro Andaluz de Biología del Desarrollo (CABD)
Control genético de la morfogénesis epitelial en vertebrados
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
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
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 Biodonostia
SWITZERLAND
Suisse Alémanique
BASEL
SOLVE-RET: Solving missing heritability in inherited retinal diseases using integrated omics and gene editing in human cellular and animal models - CH
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
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
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
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
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
- 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
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
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)
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
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)
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES