Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Sachsen-Anhalt
MAGDEBURG

Funded by an IRDiRC memberEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

SPAIN

Castilla - León
SALAMANCA

Funded by an IRDiRC memberStudy of patients with inherited platelet disorders by exome sequencing and DNA editing by CRISPR/CAS9
Hospital Clínico Universitario de Salamanca
Servicio de Hematología

SPAIN

Madrid
MADRID

SPAIN

Murcia
MURCIA

Funded by an IRDiRC memberFunctional, molecular characterization and development of a gene complementation model in congenital platelet disorders
Hospital General Universitario Morales Meseguer
Servicio de Hematología y Oncología Médica

UNITED KINGDOM

Cambridgeshire
HINXTON

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : 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

Funded by an IRDiRC memberFROGH : 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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALY

LOMBARDIA
MILANO

RBDD: Rare Bleeding Disorders Database network (coordination)
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio di Patologie Molecolari Applicate alla Clinica

CANADA

Ontario
TORONTO

Multicentric Research projects