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Research projects
GERMANY
Baden-Württemberg
FREIBURG
The role of CCL2 in nephronophthisis and autosomal dominant polycystic kidney disease (ADPKD)
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab
GERMANY
Baden-Württemberg
FREIBURG
SFB 1140 (KIDGEM) : Identification of TULP3-mutations in patients with cystic kidney disease and related ciliopathies
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab
GERMANY
Baden-Württemberg
FREIBURG
The role of nephronophthisis proteins in multiciliated cells
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab
GERMANY
Baden-Württemberg
HEIDELBERG
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
GERMANY
Nordrhein-Westfalen
ESSEN
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Universitätsklinikum Essen
Klinik für Kinderheilkunde II
GERMANY
Nordrhein-Westfalen
KÖLN
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Universitätsklinikum Köln
Pädiatrische Nephrologie, Immunologie und Hypertensiologie
GERMANY
Nordrhein-Westfalen
MÜNSTER
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
KfH Kuratorium für Dialyse und Nierentransplantation e.V.
KfH-Nierenzentrum für Kinder und Jugendliche
GERMANY
Rheinland-Pfalz
MAINZ
NEOCYST: Multidisciplinary network to study the pathogenesis, clinical presentation and prognosis of hereditary cystic kidney disease in childhood
Limbach Genetics GmbH
Medizinische Genetik Mainz - Limbach Genetics
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
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
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
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 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
- IMAGINE - Institut des Maladies Génétiques
- Equipe "Base moléculaire des maladies rénales héréditaires: néphronophtise et hypodysplasie"
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Trinity College Dublin
- ADAPT Centre
FRANCE
ILE-DE-FRANCE
PARIS
AnBiCyst : Functional characterization of ANKS6/ANKS3/BICC1 complex and implication in cystic kidney diseases
ITALY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
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
GERMANY
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
IRELAND
County Dublin
DUBLIN