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Funded by an IRDiRC member = 
Research projects
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
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
Andalucía
SEVILLA
Systematic analysis of the genetic regulatory network involved in the specification and maintenance of retinal pigment epithelium: towards new therapies for retinal neurodegenerative diseases
Centro Andaluz de Biología del Desarrollo (CABD)
Control genético de la morfogénesis epitelial en vertebrados
SPAIN
Madrid
CANTOBLANCO
Systematic analysis of the genetic regulatory network involved in the specification and maintenance of retinal pigment epithelium: towards new therapies for retinal neurodegenerative diseases
CBMSO - Centro de Biología Molecular Severo Ochoa
Morfogénesis y diferenciación del Sistema Nervioso Central en vertebrados
SWITZERLAND
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
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
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
ITALY
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
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
Multicentric Research projects
- Universitätsklinikum Magdeburg A.ö.R
- Institut für Humangenetik
- Universitätsklinikum Essen
- Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie
- 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
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- 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
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
GERMANY
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
GERMANY
Nordrhein-Westfalen
ESSEN
Dermatologic Cooperative Oncology Group (DeCOG)
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
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
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
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALY
LAZIO
ROMA