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Research projects
GERMANY
Baden-Württemberg
FREIBURG
The role of nephronophthisis proteins in multiciliated cells
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Pathological mechanisms of human cerebeller malformations
Institution: Information not provided - US
GERMANY
Niedersachsen
HANNOVER
Characterization of three candidate genes and selected variants associated with congenital anomalies of the kidneys and urinary tract (CAKUT) using in vitro and in vivo models
Medizinische Hochschule Hannover
Institut für Humangenetik
SPAIN
Madrid
MADRID
Retinal Dystrophies: genomic, cellular, functional and bioinformatic approaches to accelerate their diagnosis and treatment and to measure their impact
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
DIVERCIL: Understanding cilia and flagella diversity
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
FRANCE
ILE-DE-FRANCE
PARIS
Pathophysiological mechanisms of microcephaly
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
IRELAND
County Dublin
DUBLIN
Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre
IRELAND
County Dublin
DUBLIN
Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute
SPAIN
Cataluña
BARCELONA
Clinical, genetic and allelic heterogeneity of early-onset hereditary kidney diseases: novel molecular causes of congenital anomalies of the kidney and urinary tract
Fundació Puigvert
Laboratorio de Biología 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 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
FRANCE
ILE-DE-FRANCE
PARIS
Development of a novel functional connectivity imager for early diagnosis of brain development disorders in newborns
Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI Paris)
Ecole Supérieure de Physique et de Chimie Industrielles de la ville de Paris (ESPCI Paris)
GERMANY
Nordrhein-Westfalen
BONN
Systematic identification of disease genes for congenital malformations of the central nervous system
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik
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
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
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
Multicentric Research projects
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Trinity College Dublin
- ADAPT Centre
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
GERMANY
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
NETHERLANDS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
IRELAND
County Dublin
DUBLIN
HELICAL - Health Data Linkage for Clinical Benefit
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
VENETO
PADOVA