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Research projects
JAPAN
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
GERMANY
Hamburg
HAMBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
GERMANY
Sachsen-Anhalt
MAGDEBURG
Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
Universitätsklinikum Magdeburg A.ö.R
Institut für Humangenetik
SPAIN
Murcia
MURCIA
Implementation of next generation sequencing in the diagnosis and identification of new genes in ectodermal dysplasias
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de investigación en Pediatría
SWEDEN
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
University Hospital of Umeå
Department of Public Health and Clinical Medicine
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Bcl11b/CTIP2, a transcriptional repressor: its role in cardiac homeostasis and remodeling
Institution: Information not provided - FR
FRANCE
ILE-DE-FRANCE
PARIS
Predictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires
FRANCE
ILE-DE-FRANCE
PARIS
Structural studies of cardiac myosin for therapeutical approaches against HCM
CLCC Institut Curie
Motilité structurale
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
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
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
JAPAN
JAPAN
TOKYO
Development of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute
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
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Targets for heart regeneration : mechanisms controlling cardiomyocyte proliferation
Institution: Information not provided - FR
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Mechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Evaluation of FGF10 as a target for promoting adult cardiomyocyte proliferation after heart injury
Institution: Information not provided - FR
Multicentric Research projects
- Department of Health
- Universitätsklinikum Magdeburg A.ö.R
- Institut für Humangenetik
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- A.R. Genetica e Malattie Rare
- Humangenetisches Institut am Universitätsklinikum Erlangen
- Humangenetisches Institut
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- John Radcliffe Hospital
- Department of Cardiovascular Medicine
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
- Med. Klinik und Poliklinik II des UKGM am Standort Gießen
- ECCPS: Excellence Cluster Cardio-Pulmonary System - Office
UNITED KINGDOM
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
GERMANY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
ITALY
LAZIO
ROMA
NsEuroNet: European network on Noonan syndrome and related disorders
ITALY
LAZIO
ROMA
NSEuroNet-2 : European network on noonan syndrome and related disorders
GERMANY
Bayern
ERLANGEN
MRNET: German Mental Retardation Network -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
NETHERLANDS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
SPAIN
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
UNITED KINGDOM
Oxfordshire
OXFORD
BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALY
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
FRANCE
ILE-DE-FRANCE
PARIS
CaPTAA: Cardiac Progenitors TransAtlantic Alliance
GERMANY
Hessen
GIEßEN