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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ALEMANHA

Baden-Württemberg
HEIDELBERG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Baden-Württemberg
FREIBURG

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
FREIBURG

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

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCGAIN: Immunodysregulation due to mutations in NFKB1 (SP 5)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess - Translational research for people with DNA repair defects: Subproject 3: Optimisation of prevention
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

ALEMANHA

Niedersachsen
HANNOVER

Financiado por um membro do IRDiRCGAIN: Identification of epigenetic factors in multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

AUSTRIA

TIROL
INNSBRUCK

Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

AUSTRIA

WIEN
WIEN

Financiado por um membro do 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

BELGICA

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

BELGICA

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

CANADA

Alberta
EDMONTON

Indentification and characterization of Merlin interacting proteins
University of Alberta
Department of Medical Genetics

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCMolecular Determinants of Li-Fraumeni Syndrome Associated Cancers
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

ESPANHA

Cataluña
BADALONA

Financiado por um membro do IRDiRCIntegrative multi-omics analysis of primary antibody deficiency (PAD) patients for stratification according to cellular pathways
IJC - Instituto de Investigación contra la Leucemia Josep Carreras, Campus HGTiP
Grupo de Epigenética y enfermedades inmunitarias

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

FINLANDIA

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : 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

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SUECIA

Region Stockholm
HUDDINGE

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

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCGAIN: Immunological, functional and genetic analyses in CTLA-4 insufficiency (SP 4)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Baden-Württemberg
FREIBURG

Financiado por um membro do IRDiRCGAIN: Consequences of STAT3-activating mutations (SP6)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ALEMANHA

Bayern
WÜRZBURG

ALEMANHA

Hessen
FRANKFURT AM MAIN

ALEMANHA

Hessen
LANGEN

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie

ALEMANHA

Nordrhein-Westfalen
AACHEN

ALEMANHA

Saarland
HOMBURG

German Renal Cell Tumor Network: Molecular and clinical characterization of papillary renal cell carcinoma type II
Universitätsklinikum des Saarlandes
Klinik für Urologie und Kinderurologie

ALEMANHA

Schleswig-Holstein
KIEL

Financiado por um membro do IRDiRCGAIN: Monogenetic immune dysregulation syndromes and their influence on the plasma cell compartment
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

AUSTRIA

WIEN
WIEN

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

COREIA DO SUL

KOREA, REPUBLIC OF
SEOUL

ESPANHA

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

ESPANHA

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

ESPANHA

Cataluña
BELLATERRA

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

Characterize the behaviours and identify patterns of paediatric rare tumours
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Patients Engagement in Research Area

ESPANHA

Madrid
MADRID

Preclinical studies to demonstrate the efficacy and the safety of an ex vivo gene therapy approach in Diamond Blackfan Anemia with lentiviral vectors
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

ESPANHA

País Vasco
BARAKALDO

Financiado por um membro do IRDiRCIn 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHematopoietic stem cell biology
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRed cell biology
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProgrammed cell death in regulation of autoimmunity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFilamin a in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

OCCITANIE
TOULOUSE

RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease
Université Paul Sabatier
Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099

ITALIA

LAZIO
ROMA

ITALIA

LAZIO
ROMA

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

ITALIA

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCA Drosophila model for Nijmegen breakage Syndrome and related genetic disorders
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do 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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do 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)

ITALIA

PIEMONTE
NOVARA

Financiado por um membro do 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

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Medullary carcinoma screening and study of genotype in familial cases
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

JAPAO

JAPAN
MIYAGI

Financiado por um membro do IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCScreening of novel therapeutics for intellectual disability and autism in tuberous sclerosis complex
Tokyo Metropolitan Institute of Medical Science
Department of Brain Development and Neural Regeneration

NORUEGA

Østlandet
OSLO

Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

REINO UNIDO

Devon
EXETER

Financiado por um membro do IRDiRCThe Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy

SUICA

Suisse Alémanique
SCHLIEREN

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

SUICA

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

AUSTRIA

WIEN
WIEN

Financiado por um membro do IRDiRCMesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Gastroenterologie und Hepatologie

ESPANHA

Comunidad Valenciana
ELCHE

ESTADOS UNIDOS

South Dakota
SIOUX FALLS

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCExome sequencing in diverse populations in colorado & oregon
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

Financiado por um membro do IRDiRCMechanisms of tumor predisposition in colorectal cancer syndromes stratified by mismatch repair status
University of Helsinki
Department of Medical and Clinical Genetics

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

PAISES BAIXOS

Zuid-Holland
LEIDEN

PAISES BAIXOS

Zuid-Holland
LEIDEN

Mosaic APC mutations in patients with mild polyposis phenotypes
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

PORTUGAL

SUL
LISBOA

Assinaturas Moleculares de Prognóstico em Cancro Colorectal (AMPCC).
Faculdade de Medicina da Universidade de Lisboa
Unidade de Investigação em Oncologia Clínica Aplicada

Projetos de investigação multicêntricos