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Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Department für Innere Medizin - Medizinische Universitätsklinik Tübingen
Innere Medizin II - Onkologie, Hämatologie, Klinische Immunologie, Rheumatologie und Pulmologie

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Medizinische Hochschule Hannover
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
DÜSSELDORF

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Düsseldorf
Klinik für Kinder-Onkologie, -Hämatologie und klinische Immunologie

GERMANY

Sachsen-Anhalt
HALLE (SAALE)

Funded by an IRDiRC memberMyPred: Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia
Universitätsklinikum Halle (Saale)
Universitätsklinik und Poliklinik für Pädiatrie I

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

BELGIUM

HAINAUT
GOSSELIES

Funded by an IRDiRC memberRIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

BELGIUM

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

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

NOX NADPH oxydases in inflammatory response: physiopathological aspects, regulation mechanism and modeling
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

FRANCE

AUVERGNE-RHONE-ALPES
LA TRONCHE

Validation of a new concept of cell therapy by transfer of proteins in enzymopathies: application to the Chronic septic granulomatosis
Université Grenoble Alpes (UGA) - Campus santé
GREPI : Groupe de Recherche et d'Etudes du Processus Inflammatoire

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberRIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

ITALY

LOMBARDIA
MILANO

Pathogenesis and therapy of chronic granulomatous disease by gene transfer into hematopoietic stem cells
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

NORWAY

Østlandet
OSLO

Functional consequences of genetic variations in primary immunodeficiencies and immune dysregulation (FUNPID)
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for screening av nyfødte og avansert laboratoriediagnostikk ved medfødte stoffskiftesykdommer

SPAIN

Cataluña
BARCELONA

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

SWEDEN

Region Stockholm
HUDDINGE

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

SWITZERLAND

Suisse Alémanique
BASEL

The role of ZNF74 in the generation and maintenance of immunological memory
Universitätsspital Basel
Departement Biomedizin

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

SWITZERLAND

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

SWITZERLAND

Suisse Alémanique
ZÜRICH

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

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

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

AUSTRIA

TIROL
INNSBRUCK

Lipid peroxidation as driver of cardiolipin remodeling
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberLADOMICS: Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies -DE
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Innere Medizin III: Hämatologie und Internistische Onkologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

GERMANY

Nordrhein-Westfalen
MÜNSTER

Molecular mechanism of leukocyte migration in Leukocyte adhesion deficiendy type II
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

ITALY

CAMPANIA
CASERTA

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberUnveiling the genetic predisposition to an increased autoimmunity risk in patients with glycogen storage disease type 1b
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Dipartimento di Medicina molecolare e Biotecnologie Mediche

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

PUGLIA
BARI

Funded by an IRDiRC memberOxidative lipidomics in Barth Syndrome
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Dipartimento di Scienze mediche di base, neuroscienze e organi di senso

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of heritable human disorders
Institution: Information not provided - US

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

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

Multicentric Research projects