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Financiado por un miembro del IRDiRC = Miembro de una ERN =
Proyectos de investigación

REINO UNIDO (EL)
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics

FRANCIA
AUVERGNE-RHONE-ALPES
BRON
Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCIA
ILE-DE-FRANCE
PARIS
Monogenic diabetes (neonatal, syndromic, atypical or non-atypical): identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

REINO UNIDO (EL)
Devon
EXETER
Preventing death and long term institutional care by developing a newborn screening strategy to Identify Neonatal Diabetes
Royal Devon and Exeter Hospital - Wonford site
Royal Devon and Exeter Hospital

CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica

ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCIA
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

FRANCIA
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

JAPON
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

JAPON
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

JAPON
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
Proyectos de investigación multicéntricos
- Universitätsklinikum Aachen
- Institut für Humangenetik
- 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

ALEMANIA
Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network

CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

ITALIA
LAZIO
ROMA