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Projets de recherche

Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
CCI am Universitätsklinikum Freiburg
Institut für Immundefizienz

Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
ULM
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Partner No 2)
DRK Baden-Württemberg/ Hessen
Abteilung Molekulare Diagnostik, Molekulare Therapie und Experimentelle Transplantation

Québec
SHERBROOKE
Application clinique du séquençage de l'exome pour le diagnostic moléculaire des syndromes polymalformatifs
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Traiter les anomalies vasculaires
de Duve Institute
Laboratory of Human Genetics

Niedersachsen
HANNOVER
German Centre for Infection Research: Infections of the immunocompromised Host - Investigation of genetic susceptibility and identification of diagnostic biomarkers of infection control
Medizinische Hochschule Hannover
Abteilung für Virologie

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

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Mise au point d'une méthode d'analyse génétique par mendéliomes et génomes dans le diagnostic des génodermatoses et des maladies génétiques rares à expression cutanée
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie

OOST-VLAANDEREN
GENT
Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

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

Madrid
MADRID
Evaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

Finland
HELSINKI
Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Transporteurs de nutriments: un nouvel outil de caractérisation des progéniteurs hématopoïétiques à potentiel de transplantation optimal
Institution: Information not provided - FR

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Cambridgeshire
CAMBRIDGE
NIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

Suisse Alémanique
SCHLIEREN
Pathophysiology of Inborn Immunodeficiencies
Institute for Regenerative Medicine
Department Gene and Cell Therapy

Suisse Alémanique
SCHLIEREN
Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing
Institute for Regenerative Medicine
Department Gene and Cell Therapy

Suisse Alémanique
ZÜRICH
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Immunologie

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

Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

Madrid
MADRID
Clinically and molecularly redefining complex vascular malformations: Evaluation of new genes and new pathologies by massive sequencing
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional

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

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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
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
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
Projets de recherche multicentriques
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- University of Helsinki
- Molecular and Cancer Biology Research Unit
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- CCI am Universitätsklinikum Freiburg
- Centrum für Chronische Immundefizienz
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- The Great North Children's Hospital, Royal Victoria Infirmary
- Regional Department of Immunology
- Lund University
- Department of Experimental Medical Science
- 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 San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica

Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema

Baden-Württemberg
FREIBURG
EuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge

Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)

Finland
HELSINKI
LYMPHANGIOGENOMICS: genome-wide discovery and functional analysis of novel genes in lymphangiogenesis (FINISHED)

SICILIA
MESSINA
CHERISH: amélioration du diagnostic de retard mental chez les enfants en Europe centrale et orientale et en Asie centrale grâce à la caractérisation génétique et la bioinformatique/biostatistique

Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Baden-Württemberg
FREIBURG
EURO-PADNET: the pathophysiology and natural course of patients with Primary Antibody Deficiencies

Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases

LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases

Tyne & Wear
NEWCASTLE UPON TYNE
UK Primary Immunodeficiency Network

Region Skåne
LUND
IDR: ImmunoDeficiency Resource

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

ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique

PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française

LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

LOMBARDIA
MILANO