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Research projects

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

FINLAND

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

SWEDEN

Region Stockholm
HUDDINGE

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

SWITZERLAND

Suisse Alémanique
SCHLIEREN

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

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

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

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
ULM

Funded by an IRDiRC memberEuroCID: 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

ITALY

LAZIO
ROMA

Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

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

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberi-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Transmission génétique des formes familiales de sarcoidose
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Transmission génétique des formes familiales de sarcoidose
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie

FRANCE

ILE-DE-FRANCE
CLAMART

Funded by an IRDiRC memberOSTEOVALYMPH: Autocrine/paracrine CXCL12/CXCR4-CXCR7 signaling within the bone marrow osteo-vascular niche: impact on lymphoid specification and commitment of hematopoietic stem cells - FR
Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
Unité "Inflammation, Chimiokines et Immunopathologie" - Inserm UMRS-996 / Université Paris-Sud

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberFMFgeneToDiag : Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests - FR
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933

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

NOVELPID: dissection génétique de l'encéphalite herpétique chez l'enfant (coordination)
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGENMSMD: Human genetic dissection of Mendelian susceptibility to mycobacterial disease - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Search for novel genetic defects underlying the hyper-IgE syndrome
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberThe genetic cause of chronic mucocutaneous candidiasis (CMC)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Epigenetic analysis in patients with Primary Antibody Deficiencies
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Immunodysregulation due to mutations in NFKB1 (SP 5)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberGAIN: Identification of epigenetic factors in multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

GERMANY

Nordrhein-Westfalen
AACHEN

GERMANY

Sachsen
DRESDEN

Perturbed type I interferon responses in pediatric autoinflammatory diseases with vascular inflammation (TRR 237: Nucleic Acid Immunity B18)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Sachsen
DRESDEN

Function of RNase Inhibitor 1 in the pathogenesis of systemic autoimmunity
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Sachsen
DRESDEN

TRR 237 - Nucleic Acid Immunity: Phenotypic and genetic dissection of type I interferonopathies (B21)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

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

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDiscovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application

NETHERLANDS

Gelderland
NIJMEGEN

Funded by an IRDiRC memberEURO-CMC: Novel treatment strategies for autosomal dominant chronic mucocutaneous candidiasis - NL
Radboudumc - Radboud universitair medisch centrum
Sectie Infectieziekten

SPAIN

Andalucía
SEVILLA

New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
CABIMER - Centro Andaluz de Biología Molecular y Medicina Regenerativa
Reparación de cortes de doble cadena en el DNA

SWEDEN

Region Stockholm
HUDDINGE

The role of antimicrobial peptides (AMPs) in mucosal immunity
Karolinska Institutet - Huddinge
Department of Medicine

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 memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

WIEN
WIEN

Novel immunodeficiency unravels immune homeostasis mechanism
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

CANADA

Ontario
TORONTO

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

CANADA

Québec
MONTRÉAL

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberDevelopment og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

USIDNET: modelization of X+CGD chronic granulomatous disease and Nox2 super oxidase mutants in the PLB-985 cell line to study the NADPH oxidase activation process
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique

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

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberKLKIN : Netherton Syndrome: From mechanisms to therapeutics - DE (partner no 3)
Albert-Ludwigs-Universität Freiburg
Institut für Molekulare Medizin und Zellforschung

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Immunological, functional and genetic analyses in CTLA-4 insufficiency (SP 4)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Consequences of STAT3-activating mutations (SP6)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberMyPred - Optimizing the Care of Young Individuals with Predisposition to Myeloid Neoplasia: Role of RUNX1 mutations in leukemogenesis in congenital neutropenia (SP2)
Department für Innere Medizin - Medizinische Universitätsklinik Tübingen
Innere Medizin II - Onkologie, Hämatologie, Klinische Immunologie, Rheumatologie und Pulmologie

GERMANY

Bayern
NEUHERBERG

GERMANY

Hessen
FRANKFURT AM MAIN

GERMANY

Niedersachsen
GÖTTINGEN

GERMANY

Schleswig-Holstein
KIEL

Funded by an IRDiRC memberGAIN: Monogenetic immune dysregulation syndromes and their influence on the plasma cell compartment
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

ITALY

CAMPANIA
NAPOLI

ITALY

LAZIO
ROMA

ITALY

LAZIO
ROMA

Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia

ITALY

LAZIO
ROMA

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LAZIO
ROMA

Netherton syndrome: from disease pathogenesis to improved diagnosis and patient care
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberA Drosophila model for Nijmegen breakage Syndrome and related genetic disorders
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberGenetic and biology of Omenn Syndrome
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberExcitatory/Inhibitory unbalance in Ataxia telangiectasia and perspective therapeutical interventions
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

ITALY

PIEMONTE
NOVARA

Funded by an IRDiRC memberSAP-mediated DGKa inhibition triggers a novel cell fate switch in antigen-activated T cells: implications for XLP1 therapy (terminated)
Università degli Studi del Piemonte Orientale
Centro Interdisciplinare di Ricerca sulle Malattie Autoimmuni

ITALY

PIEMONTE
NOVARA

JAPAN

JAPAN
TOKUSHIMA

Funded by an IRDiRC memberNew treatment strategies for hyper-IgE syndrome based on the pathogenesis and pathophysiology of the syndrome.
Institute for Genome Research, Tokushima University
Division of molecular medicine

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberCellular ageing associated with early exposure to stressful events in 22q11.2 deletion syndrome
Hospital General Universitario Gregorio Marañón
Servicio de Psiquiatría del Niño y del Adolescente

SWEDEN

Region Stockholm
STOCKHOLM

The Histiocytosis: clinical and immunological studies
Astrid Lindgren Children's Hospital - Karolinska
Paediatric Oncology

SWEDEN

Region Stockholm
STOCKHOLM

SWITZERLAND

Suisse Alémanique
SCHLIEREN

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Greater London
LONDON

The genetic causes of Nephrotic syndrome
Evelina London Children's Hospital
Paediatric Nephrology

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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 memberCytokine signaling and primary immunodeficiency
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProgrammed cell death in regulation of autoimmunity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Molecular diagnosis of poikiloderma with neutropenia (C16ORF57 gene sequencing)
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

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
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

LOMBARDIA
MILANO

Gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberT cell gene therapy for X-linked hyper IgM syndrome using a modified Cas9-mediated targeted genome editing.
National Center for Child Health and Development
Department of Human Genetics

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberGene-corrected stem cells for curative treatment of SCID
LUMC - Leids Universitair Medisch Centrum
Afdeling Immunohematologie en Bloedtransfusie

SWEDEN

Region Stockholm
HUDDINGE

Gene and cell therapy for X-linked agammaglobulinemia
Karolinska Institutet - Huddinge
Department of laboratory medicine

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

Multicentric Research projects