Orphanet: Ricerca per malattia/gene
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Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

GERMANIA

Baden-Württemberg
HEIDELBERG

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

GERMANIA

Niedersachsen
HANNOVER

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

AUSTRIA

TIROL
INNSBRUCK

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

AUSTRIA

WIEN
WIEN

Finanziato da un ente associato a 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

BELGIO

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

BELGIO

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

Finanziato da un ente associato a IRDiRCMolecular Determinants of Li-Fraumeni Syndrome Associated Cancers
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

FINLANDIA

Finland
TURKU

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

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

CENTRE-VAL DE LOIRE
ORLÉANS

Finanziato da un ente associato a IRDiRCFirst preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose

FRANCIA

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

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a 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

GERMANIA

Baden-Württemberg
FREIBURG

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
FREIBURG

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

GERMANIA

Baden-Württemberg
FREIBURG

Finanziato da un ente associato a IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

GERMANIA

Baden-Württemberg
HEIDELBERG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

GERMANIA

Baden-Württemberg
ULM

Finanziato da un ente associato a IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

GERMANIA

Bayern
WÜRZBURG

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

GERMANIA

Niedersachsen
GÖTTINGEN

Finanziato da un ente associato a IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

GERMANIA

Niedersachsen
HANNOVER

Finanziato da un ente associato a IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

GERMANIA

Nordrhein-Westfalen
DÜSSELDORF

Finanziato da un ente associato a IRDiRCGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

GERMANIA

Nordrhein-Westfalen
DÜSSELDORF

Finanziato da un ente associato a IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

GERMANIA

Schleswig-Holstein
KIEL

Finanziato da un ente associato a IRDiRCGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SPAGNA

Cataluña
BADALONA

Finanziato da un ente associato a 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

SVEZIA

Region Stockholm
HUDDINGE

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

AUSTRIA

WIEN
WIEN

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

BELGIO

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CANADA

Ontario
TORONTO

Finanziato da un ente associato a IRDiRCPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

COREA DEL SUD

KOREA, REPUBLIC OF
SEOUL

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

OCCITANIE
TOULOUSE

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

GERMANIA

Hessen
FRANKFURT AM MAIN

GERMANIA

Hessen
LANGEN

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

GERMANIA

Nordrhein-Westfalen
AACHEN

GERMANIA

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

GIAPPONE

JAPAN
MIYAGI

Finanziato da un ente associato a IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCDevelopment of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a 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

ITALIA

LAZIO
ROMA

Studio della patogenesi dei fenomeni autoimmune nelle immunodeficienze primitive
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

ITALIA

LAZIO
ROMA

Caratterizzazione clinica e molecolare di sindromi genetiche con cardiopatie congenite
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALIA

LAZIO
ROMA

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

Finanziato da un ente associato a IRDiRCSindrome di Wiskott-Aldrich: caratterizzazione dei difetti immunologici e studi preclinici di terapia genica
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCSbilanciato rapporto tra eccitazione e inibizione nell'atassia telangectasia e prospettive d'intervento terapeutico
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

Finanziato da un ente associato a IRDiRCL'inibizione di DGK-alfa accende un nuovo interruttore che determina il destino cellulare dei linfociti T attivati: implicazioni per la terapia di XLP1
Università degli Studi del Piemonte Orientale
Centro Interdisciplinare di Ricerca sulle Malattie Autoimmuni

ITALIA

PUGLIA
SAN GIOVANNI ROTONDO

Screening per carcinoma midollare della tiroide e studio del genotipo nelle forme familiari
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

NORVEGIA

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

PAESI BASSI

Noord-Holland
AMSTERDAM

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

PAESI BASSI

Noord-Holland
AMSTERDAM

Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

REGNO UNITO; GRAN BRETAGNA

Devon
EXETER

Finanziato da un ente associato a IRDiRCThe Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy

SPAGNA

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

SPAGNA

Andalucía
SEVILLA

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

SPAGNA

Cataluña
BELLATERRA

SPAGNA

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

SPAGNA

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

SPAGNA

Madrid
MADRID

SPAGNA

País Vasco
BARAKALDO

Finanziato da un ente associato a 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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHematopoietic stem cell biology
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMolecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRed cell biology
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProgrammed cell death in regulation of autoimmunity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFilamin a in tsc
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFa ddr pathway in germline integrity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVIZZERA

Suisse Alémanique
SCHLIEREN

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

SVIZZERA

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

Finanziato da un ente associato a IRDiRCMesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Gastroenterologie und Hepatologie

AUSTRIA

WIEN
WIEN

Finanziato da un ente associato a IRDiRCMesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Chirurgie

FINLANDIA

Finland
HELSINKI

Finanziato da un ente associato a 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

PAESI BASSI

Zuid-Holland
LEIDEN

PAESI BASSI

Zuid-Holland
LEIDEN

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

PORTOGALLO

SUL
LISBOA

Prognostic Signatures in Colorectal Cancer (PSCC).
Faculdade de Medicina da Universidade de Lisboa
Unidade de Investigação em Oncologia Clínica Aplicada

REGNO UNITO; GRAN BRETAGNA

Hampshire
SOUTHAMPTON

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCAdvanced molecular diagnosis of adenomatous polyposis type X: analysis of genetic mosaicism
Hospital Clínico San Carlos
Laboratorio de oncología molecular

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCExome sequencing in diverse populations in colorado & oregon
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMolecular studies of malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Progetti di ricerca multicentrici