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Funded by an IRDiRC member = Member of a ERN =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberRole on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

GRAND-EST
STRASBOURG

Bernard-Soulier Syndrome and MYH9 associated diseases: study of blood platelets anomalies and of the thrombopoïesis, correction by genetic therapy
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose

FRANCE

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

Mutational spectra and clinical manifestation in patients with congenital haemophilia
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik

ISRAEL

ISRAEL
ADDRESS: NOT PROVIDED - IL

Funded by an IRDiRC memberZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberApproach to inherited bleeding disorders of complex etiology by applying a common exome sequencing strategy
Banc de Sang i Teixits. Edifici Dr. Frederic Duran i Jordà
Unidad de Diagnóstico y Terapia Molecular

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

GRAND-EST
STRASBOURG

Characterisation of mutations responsible for Bernard-Soulier syndrome (GP1BA, BP1BB and GP9 genes)
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose

ITALY

LOMBARDIA
MILANO

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

ITALY

LOMBARDIA
MILANO

Produzione vettori per la terapia genica (Sindrome di Wiskott-Aldrich e Leucodistrofia Metacromatica)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberWiskott-Aldrich syndrome: characterization of immune system defects and gene therapy preclinical studies
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberIn vitro modeling of primary immunodeficiencies with defects in NK cells
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en terapia celular, células madre y tejidos

UNITED KINGDOM

Devon
EXETER

Funded by an IRDiRC memberThe Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical research of oral connective tissue program
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProtein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

CANADA

Ontario
TORONTO

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRole of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

CANADA

Ontario
TORONTO

Multicentric Research projects