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Financé par un membre IRDiRC = Membre d'un ERN =

Projets de recherche

ALLEMAGNE

Baden-Württemberg
FREIBURG

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCEuroCID: Non-SCID combined immunodeficiencies: a diagnostic and therapeutic challenge - DE (Koordination)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

BELGIQUE

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

FINLANDE

Finland
HELSINKI

Genetics of primary immunodeficiency diseases
HUS - Helsinki University Hospital

ITALIE

LAZIO
ROMA

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

ROYAUME-UNI

Cambridgeshire
CAMBRIDGE

Financé par un membre IRDiRCNIHR BioResource - Rare Disease: PID - Primary Immune Disorders
Addenbrooke's Hospital
Department of Medicine - Renal services

SUEDE

Region Stockholm
HUDDINGE

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

SUISSE

Suisse Alémanique
SCHLIEREN

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

SUISSE

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

Suisse Alémanique
ZÜRICH

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

ALLEMAGNE

Baden-Württemberg
FREIBURG

ALLEMAGNE

Baden-Württemberg
FREIBURG

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

ALLEMAGNE

Baden-Württemberg
FREIBURG

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

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALLEMAGNE

Baden-Württemberg
FREIBURG

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

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCGAIN: Immunodysregulation due to mutations in NFKB1 (SP 5)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALLEMAGNE

Niedersachsen
HANNOVER

Financé par un membre IRDiRCGAIN: Identification of epigenetic factors in multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

ALLEMAGNE

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

ALLEMAGNE

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

ALLEMAGNE

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

AUTRICHE

WIEN
WIEN

Financé par un membre IRDiRCi-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

ESPAGNE

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

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMolecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
PARIS

Maladies hématologiques constitutionnelles: recherche clinique, thérapeutique; biologie moléculaire
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIE

LOMBARDIA
MILANO

Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCWiskott-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

ROYAUME-UNI

Devon
EXETER

Financé par un membre IRDiRCThe Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy

SUEDE

Region Stockholm
HUDDINGE

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

SUISSE

Suisse Romande
LAUSANNE

Role of the Wiskott-Aldrich Syndrome Protein (WASp) in the Differentiation and Regulation of the Immune System
Centre Hospitalier Universitaire Vaudois CHUV
Service d'immunologie et allergie

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCKLKIN : Netherton Syndrome: From mechanisms to therapeutics - DE (partner no 3)
Albert-Ludwigs-Universität Freiburg
Institut für Molekulare Medizin und Zellforschung

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCGAIN: Immunological, functional and genetic analyses in CTLA-4 insufficiency (SP 4)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALLEMAGNE

Baden-Württemberg
FREIBURG

Financé par un membre IRDiRCGAIN: Consequences of STAT3-activating mutations (SP6)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALLEMAGNE

Bayern
NEUHERBERG

ALLEMAGNE

Hessen
FRANKFURT AM MAIN

ALLEMAGNE

Niedersachsen
GÖTTINGEN

ALLEMAGNE

Schleswig-Holstein
KIEL

Financé par un membre IRDiRCGAIN: Monogenetic immune dysregulation syndromes and their influence on the plasma cell compartment
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

AUTRICHE

WIEN
WIEN

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

CANADA

Ontario
TORONTO

CANADA

Québec
MONTRÉAL

Les bases génétiques des malformations atypiques dans le syndrome de gènes contigus : le cas de 22q11.2
Montreal Children's Hospital Research Institute - McGill University
Department of Pediatrics / Département de pédiatrie

ESPAGNE

Madrid
MADRID

Financé par un membre IRDiRCCellular 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

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCCytokine signaling and primary immunodeficiency
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProgrammed cell death in regulation of autoimmunity
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCTargeting jak3 in the treatment of autoimmune disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

FINLANDE

Finland
HELSINKI

Financé par un membre IRDiRCDevelopment og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

FINLANDE

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Financé par un membre IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
PARIS

Financé par un membre IRDiRCSTaHR : 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

FRANCE

PAYS DE LA LOIRE
NANTES

Financé par un membre IRDiRCFROGH : 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

ITALIE

CAMPANIA
NAPOLI

ITALIE

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

ITALIE

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

ITALIE

LAZIO
ROMA

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

ITALIE

LAZIO
ROMA

Financé par un membre IRDiRCA Drosophila model for Nijmegen breakage Syndrome and related genetic disorders
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCGenetic and biology of Omenn Syndrome
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

ITALIE

LOMBARDIA
MILANO

Financé par un membre IRDiRCExcitatory/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)

ITALIE

PIEMONTE
NOVARA

Financé par un membre IRDiRCSAP-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

JAPON

JAPAN
TOKUSHIMA

Financé par un membre IRDiRCNew 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

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCDevelopment of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology

ROYAUME-UNI

Cambridgeshire
CAMBRIDGE

ROYAUME-UNI

Greater London
LONDON

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

SUEDE

Region Stockholm
STOCKHOLM

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

SUISSE

Suisse Alémanique
SCHLIEREN

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

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

ETATS-UNIS

Washington
ADDRESS: NOT PROVIDED - US

Financé par un membre IRDiRCClinical research of oral connective tissue program
Institution: Information not provided - US

ITALIE

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

JAPON

JAPAN
TOKYO

Financé par un membre IRDiRCT 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

PAYS-BAS

Zuid-Holland
LEIDEN

Financé par un membre IRDiRCGene-corrected stem cells for curative treatment of SCID
LUMC - Leids Universitair Medisch Centrum
Afdeling Immunohematologie en Bloedtransfusie

SUEDE

Region Stockholm
HUDDINGE

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

Projets de recherche multicentriques