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322 Resultado(s)

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

Projetos de investigação

ALEMANHA

Baden-Württemberg
FREIBURG

The role of CCL2 in nephronophthisis and autosomal dominant polycystic kidney disease (ADPKD)
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

ALEMANHA

Bayern
WÜRZBURG

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum
Institut für Humangenetik

ALEMANHA

Bayern
WÜRZBURG

MALTA-FABRY: MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
Universitätsklinikum Würzburg
ZESE - Zentrum für Seltene Erkrankungen (ZSE) - Referenzzentrum Nordbayern

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

ALEMANHA

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

ALEMANHA

Hessen
LANGEN

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

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf
Institut für Pathologie

ALEMANHA

Saarland
HOMBURG

German Renal Cell Tumor Network: Genetic Analysis of Bellini duct carcinoma
Universitätsklinikum des Saarlandes
Klinik für Urologie und Kinderurologie

ALEMANHA

Sachsen
LEIPZIG

High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie

AUSTRIA

WIEN
WIEN

Financiado por um membro do IRDiRCNeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

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 IRDiRCThe FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)

COREIA DO SUL

KOREA, REPUBLIC OF
KOREA

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

Andalucía
SEVILLA

Financiado por um membro do IRDiRCBiomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCPrediction models in autosomal dominant hereditary nephropathies
Fundació Puigvert
Servicio de Nefrología

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCImproved treatment of lysosomal deposition diseases using optimized nanometric vehicles
Vall d'Hebron Institut de Recerca VHIR
CIBBIM-Nanomedicina. Direccionamento y Liberación Farmacológica

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCComprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia

ESPANHA

Extremadura
BADAJOZ

Surgical Treatment of Pancreatic Metastases From Renal Cell Carcinoma
Hospital Universitario de Badajoz
Servicio de Cirugía Hepatobiliopancreática

ESPANHA

Galicia
SANTIAGO DE COMPOSTELA

ESPANHA

Galicia
VIGO

Financiado por um membro do IRDiRCStudy of immunitary system dysfunction in Fabry Disease
Hospital Álvaro Cunqueiro
Grupo de Patología neonatal, Pediatría, Enfermedades Raras

ESPANHA

Galicia
VIGO

Financiado por um membro do IRDiRCMolecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

ESPANHA

Madrid
MADRID

ESPANHA

Navarra
PAMPLONA

Financiado por um membro do IRDiRCAdvanced therapies and disease models for primary hyperoxaluria by in vivo genome editing and cell reprogramming
CIMA - Centro de Investigación Médica Aplicada
Grupo de Células Madre y reprogramación, enfermedades raras

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 IRDiRCGenetic epidemiology of complex diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHuman biochemical genetics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCilium-associated structures in rod cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information 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

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCZfp423 mechanisms in joubert syndrome and related disorders
Institution: Information 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 IRDiRCNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOpposing pathways in mammalian sex determination
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
GRENOBLE

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

FRANCA

GRAND-EST
STRASBOURG

Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

FRANCA

ILE-DE-FRANCE
GARCHES

Understanding the pathophysiology of Fabry disease
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Génétique Médicale - Centre de référence Maladies Rares

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

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
CHU de Bordeaux-GH Pellegrin
Laboratoire de génétique moléculaire

ITALIA

CAMPANIA
NAPOLI

ITALIA

LOMBARDIA
SAN DONATO MILANESE

Effect of Migalastat on Cardiac Involvement in Fabry Disease
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale

ITALIA

SICILIA
PALERMO

Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze

JAPAO

JAPAN
KYOTO

Financiado por um membro do IRDiRCDevelopment of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
Kyoto University Graduate School of Medicine
Department of Anatomy 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

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

PORTUGAL

NORTE
PORTO

Doença de fabry - um estudo imunológico.
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

REINO UNIDO

Greater London
LONDON

REINO UNIDO

Oxfordshire
OXFORD

Financiado por um membro do IRDiRCTranslating genomic signatures in kidney cancer into patient care
University of Oxford
Oxford University Offices

REINO UNIDO

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

SUECIA

Region Skåne
LUND

Bacterial virulence factors, innate immunity and prothrombotic mechanisms in renal disease
Skånes Universitetssjukhus
Department of Clinical Sciences, Division of Pediatrics

SUECIA

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SUICA

Suisse Alémanique
BERN

Thrombotic thrombocytopenic purpura - role of ADAMTS13 and long-term outcome
University Hospital Inselspital
Department of Hematology and Central Hematology Laboratory

ALEMANHA

Baden-Württemberg
TÜBINGEN

Impact of MRKH syndrome in somatic, social and mental health
Universitäts-Frauenklinik Tübingen
Frauenklinik

ALEMANHA

Baden-Württemberg
TÜBINGEN

ALEMANHA

Baden-Württemberg
TÜBINGEN

Impact of MRKH syndrome in somatic, social and mental health
ViTa-Gebäude Talklinikum
Abteilung Psychosomatische Medizin und Psychotherapie am Universitätsklinikum Tübingen

ALEMANHA

Baden-Württemberg
ULM

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

ALEMANHA

Berlin
BERLIN

CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

ALEMANHA

Berlin
BERLIN

Molecular genetics of autosomal-dominant hypertension with brachydactyly type E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

ALEMANHA

Nordrhein-Westfalen
BAD OEYNHAUSEN

Molekular diagnosis and pathomechanism in pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCGeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

AUSTRIA

TIROL
INNSBRUCK

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology

BELGICA

VLAAMS BRABANT
LEUVEN

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

CANADA

Ontario
TORONTO

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

ESPANHA

Baleares
PALMA DE MALLORCA

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCQuantitative profiles of complement FH/FHR proteins as biomarkers of disease predisposition and evolution in primary and secondary haemolytic uraemic syndrome
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Laboratorio de Inmunopatología del Complemento

ESTADOS UNIDOS

South Dakota
SIOUX FALLS

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

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 IRDiRCDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and genetic studies of vacterl association
Institution: Information not provided - US

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

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOxysterols in slos neurodevelopment: pathological role and therapy
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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical investigations of smith-lemli-opitz syndrome
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

Financiado por um membro do IRDiRCGender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenes for non-syndromic congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic modifiers of congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInborn errors of cholesterol synthesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian developmental genetics and stem cells
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 5: characterization of social phenotype
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: 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

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

BOURGOGNE-FRANCHE-COMTE
DIJON

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

FRANCA

CENTRE-VAL DE LOIRE
ORLÉANS

Financiado por um membro do 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

FRANCA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

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

EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de génétique

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

OCCITANIE
TOULOUSE

Structure-function relationship of the TSH receptor and of the related receptors
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

FRANCA

PAYS DE LA LOIRE
ANGERS

ITALIA

EMILIA ROMAGNA
MODENA

Pseudoxanthoma elasticum: from the understanding of pathogenetic mechanisms towards therapeutic perspectives
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico

ITALIA

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

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 IRDiRCRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LIGURIA
GENOVA

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

TOSCANA
SIENA

Preclinical testing of PNP inhibitors analogues of Immucillin-G for therapy of Lesh-Nyhan disease: preliminary in vitro studies
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

ITALIA

UMBRIA
PERUGIA

ITALIA

VENETO
ZELARINO

Financiado por um membro do IRDiRCTowards an innovative therapy of ectrodactyly ectodermal dysplasia clefting syndrome using allele specific RNA silencing
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare

ITALIA

VENETO
ZELARINO

JAPAO

JAPAN
FUKUOKA

Financiado por um membro do IRDiRCEstablishment of high evidence level for revision of guideline ofAllied Disorders of Hirschsprung's disease
Kyushu University Faculty of Medical Sciences
Department of Pediatric Surgery

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

PAISES BAIXOS

Gelderland
NIJMEGEN

HNF1ß: master regulator of cilia formation and electrolyte homeostasis in ADTKD-HNF1ß patients
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

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

PAISES BAIXOS

Noord-Holland
AMSTERDAM

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

PORTUGAL

SUL
LISBOA

Análise funcional e genética das proteinas cinase WNK envolvidas no síndrome de Gordon
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Unidade de Investigação e Desenvolvimento

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Financiado por um membro do IRDiRCThe Role of Membrane Attack Complex in Atypical Haemolytic Uraemic Syndrome
Institute of Cellular Medicine, Newcastle University, Medical School
Institute of Cellular Medicine

SUECIA

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

SUICA

Suisse Romande
GENÈVE

Non-cell-autonomous circadian regulation of brain function
UNIGE
Département de Génétique et Evolution

ALEMANHA

Baden-Württemberg
TÜBINGEN

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie

ALEMANHA

Bayern
MÜNCHEN

Role of kinase-coupled TRP channels in Mg2+ homeostasis: From mouse models to human disease (TRR 152: P15)
Walther-Straub-Institut für Pharmakologie und Toxikologie der LMU München
Walther-Straub-Institut für Pharmakologie und Toxikologie

ALEMANHA

Mecklenburg-Vorpommern
GREIFSWALD

Mutational spectra and clinical manifestation in patients with congenital haemophilia
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

European Alport therapy registry
Universitätsmedizin Göttingen
Klinik für Nephrologie und Rheumatologie

ESPANHA

Madrid
ALCORCÓN

Financiado por um membro do IRDiRCDeciphering the role of factor-H related proteins in complement-related kidney diseases
Hospital Universitario Fundación Alcorcón
Servicio de Nefrología

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCDeciphering the role of factor-H related proteins in complement-related kidney diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Nefrología Clínica

ESPANHA

País Vasco
BARAKALDO

ESPANHA

País Vasco
DERIO

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCRole on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

GRAND-EST
STRASBOURG

Bernard-Soulier Syndrome and MYH9 associated diseases: study of blood platelets anomalies and of the thrombopoïesis, correction by genetic therapy
Établissement Français du Sang - Grand Est
UR U311 - Biologie et pharmacologie de l'hémostase et de la thrombose

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCT-JUST: Tight junctions: from structure to treatment - FR
Centre de Recherches des Cordeliers (CRC)
Equipe "Métabolisme et Physiologie Rénale"

FRANCA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Financiado por um membro do IRDiRCMNaims : Molecular dissection of PLA2R1-related membranous nephropathy: towards a portfolio of new clinical biomarkers - FR
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Physiopathologie moléculaire des phospholipases A2 & de leurs médiateurs"

PAISES BAIXOS

Gelderland
NIJMEGEN

The magnesium journey through the renal cell: how to get out?
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

PORTUGAL

NORTE
PORTO

Síndrome de Alport: Estudo clínico e molecular de famílias Portuguesas
Faculdade de Medicina da Universidade do Porto
Unidade de Investigação e Desenvolvimento de Nefrologia

PORTUGAL

NORTE
PORTO

LIMP-2: da genética clínica à genómica funcional
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

REINO UNIDO

Greater London
LONDON

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

SUECIA

Region Stockholm
STOCKHOLM

Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health

ALEMANHA

Baden-Württemberg
HEIDELBERG

Financiado por um membro do IRDiRCReDox: Repurposing doxycycline in the treatment of AL amyloidosis - DE
Zentrum für Innere Medizin (Krehl-Klinik)
Abteilung Innere Medizin V - Hämatologie, Onkologie und Rheumatologie

ALEMANHA

Bayern
ERLANGEN

Financiado por um membro do IRDiRCSTOP-FSGS: Soluble factors in FSGS
Internistisches Zentrum des Universitätsklinikums Erlangen
Medizinische Klinik 4 - Nephrologie und Hypertensiologie

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCActiMON: Activity monitoring in adolescents and young adults with inflammatory rheumatic musculoskeletal diseases
Deutsches Rheuma-Forschungszentrum Berlin
Forschungsbereich Epidemiologie

ALEMANHA

Hamburg
HAMBURG

International Inceptions cohort for Juvenile Systemic Sclerosis (jSSc)
Schön Klinik Hamburg Eilbek
Hamburger Zentrum für Kinder- und Jugendrheumatologie

ALEMANHA

Nordrhein-Westfalen
KÖLN

Genomic profiling and epigenetic biomarker discovery in steroid-resistant nephrotic syndrome
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

ALEMANHA

Nordrhein-Westfalen
KÖLN

Alterations of slit diaphragm signaling as a cause of FSGS
Universitätsklinikum Köln
Klinik II für Innere Medizin - Nephrologie, Rheumatologie, Diabetologie und allgemeine Innere Medizin

ALEMANHA

Sachsen-Anhalt
DESSAU

Diagnostic criteria of Behcet disease
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

ALEMANHA

Sachsen-Anhalt
DESSAU

Epidemiology of Behcet disease in Germany
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

ALEMANHA

Sachsen-Anhalt
DESSAU

Prognostic criteria of Behcet disease
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

ALEMANHA

Schleswig-Holstein
LÜBECK

Generation and characterization of an antibody-based mouse model for systemic sclerosis
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Rheumatologie und Klinische Immunologie

CANADA

Ontario
TORONTO

ESPANHA

Andalucía
GRANADA

Financiado por um membro do IRDiRCUrinary biomarkers for the non-invasive diagnosis of kidney disease in systemic autoimmune diseases
GENYO - Genómica e Investigación Oncológica
Grupo de Genética de enfermedades complejas

ESPANHA

Andalucía
SEVILLA

Financiado por um membro do IRDiRCAutophagy and inflammation: model in classic autoinflammatory syndromes and Behçet's disease
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Inmunología

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCJuvenile myositis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic analysis of complex inflammatory disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetics; natural history; and pathophysiology of behcet's 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 IRDiRCImmunogenetic mechanisms in behcet's 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

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 IRDiRCPathogenesis of behcet's disease and still's disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 1: systemic sclerosis skin biomarkers & therapeutics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProject 3: targeting pro-fibrotic e3 ligases in systemic sclerosis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
BRON

Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est
Unité Médicale de Génétique des Cancers et des Maladies Multifactorielles

FRANCA

AUVERGNE-RHONE-ALPES
BRON

Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie

FRANCA

ILE-DE-FRANCE
MONTROUGE

Financiado por um membro do IRDiRCVasorin: Role of Vasorin in the kidney, bone and arterial crosstalk - FR
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

FRANCA

ILE-DE-FRANCE
PARIS

Evaluation and treatement of scleroderma
CHU Paris Est - Hôpital Saint-Antoine
Service de médecine interne

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCFMFgeneToDiag : 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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCGenetransnephrose: Genetic and translational studies in patients with steroid sensitive nephrotic syndrome - FR
Groupe hospitalier AP-HP.6 - Hôpital Tenon
INSERM UMRS 1155 "Des maladies rénales aux maladies fréquentes, remodelage et réparation"

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCDESSCIPHER: Development and Prevention of Severe Heart Disease in Systemic Sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCDESSCIPHER: Development and prevention of pulmonary hypertension in systemic sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCPrevention and Treatment of Digital Ulcers in Systemic Sclerosis - IT (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALIA

LOMBARDIA
BERGAMO

Financiado por um membro do IRDiRCUnravelling the role of PAX2 mutations in human Focal Segmental Glomerulosclerosis
IRCCS Mario Negri - Centro Anna Maria Astori
Dipartimento Medicina Molecolare

ITALIA

LOMBARDIA
RANICA

Financiado por um membro do IRDiRCIdentification of new genes associated to familial idiopathic steroid-resistant nephrotic syndrome
Istituto di Ricerche Farmacologiche Mario Negri
Centro di Ricerche Cliniche per le Malattie Rare

JAPAO

JAPAN
AICHI

Financiado por um membro do IRDiRCThe establishment of novel diagnostic methods for adult nephrotic syndrome.
Nagoya University Graduate School of Medicine
Division of Nephrology

JAPAO

JAPAN
KUMAMOTO

Financiado por um membro do IRDiRCThe investigation on the efficacy of new low molecular compound for systemic sclerosis
Faculty of Life Sciences, Kumamoto University
Department of Dermatology and Plastic Surgery

PAISES BAIXOS

Utrecht
NIEUWEGEIN

Genetic predisposition to interstitital lung diseases and disease phenotypes
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum

REINO UNIDO

Cambridgeshire
CAMBRIDGE

REINO UNIDO

Greater London
LONDON

ALEMANHA

Bayern
MÜNCHEN

Establishment of surface plasmon resonance (SPR) tests for improved diagnostics of autoimmune diseases
Klinikum rechts der Isar der Technischen Universität München
Arbeitsgruppe Biosensorik

ESPANHA

Andalucía
ARMILLA

Financiado por um membro do IRDiRCIdentification of functionally relevant genetic variants associated with GCA - ES
Instituto de Parasitología y Biomedicina "López-Neyra"
Bases genéticas de las enfermedades autoinmunes

ESPANHA

Andalucía
ARMILLA

Financiado por um membro do IRDiRCIdentification of pathogenic mechanisms involved in the development of giant cell arteritis through individual T-cell transcriptome sequencing
Instituto de Parasitología y Biomedicina "López-Neyra"
Bases fisiopatología y terapéutica médica

ESPANHA

Andalucía
CÓRDOBA

Financiado por um membro do IRDiRCIdentification of molecular heterogeneity associated with cardiovascular disease, clinical course and therapeutic response in systemic autoimmune diseases
IMIBIC - Instituto Maimónides de Investigación Biomédica de Córdoba
GC05 - Grupo de investigación en enfermedades autoinmunes inflamatorias sistémicas y crónicas del aparato locomotor

ESPANHA

Cantabria
SANTANDER

Financiado por um membro do IRDiRCCharacterization of molecular bases of IgA-mediated vasculitis
IDIVAL: Instituto de Investigación Marqués de Valdecilla
Grupo de Epidemiología genética y arterioesclerosis en enfermedades inflamatorias sistémicas

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCFunctional characterisation of inflammation and vascular remodelling pathways in GCA - ES
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades autoinmunes sistémicas

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCChimeric autoantigen receptor T cells (CAAR-Tcell) as a new targeted therapy for lupus nephritis
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en reumatología

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCProfile of exosomal microRNAs and their long-term prognostic value in systemic lupus erythematosus. Association with established markers of kidney damage
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de estudio de riesgo cardiometabólico y renal

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 IRDiRCCharacterizing the takayasu arteritis genetic risk in rps9/lilrb3
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

ILE-DE-FRANCE
PARIS

Model contribution in the microeconomic assessment of therapeutic strategies in Wegener granulomatosis
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de Santé publique : Gestion des risques et qualité

IRLANDA

County Dublin
DUBLIN

Urinary sCD163 as a biomarker in crescentic glomerulonephritis
Trinity College Dublin
Trinity Translational Medicine Institute

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCIdentification of biological and imaging events that predict the progression of Takayasu arteritis (TA) vascular lesions
ISS - Istituto Superiore di Sanità
Centro di Riferimento per la Medicina di Genere

ITALIA

PUGLIA
BARI

Physiopathology of HCV-related Cryoglobulinemic Vasculitis: molecular, immunological and clinical analisys
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Unità di Epatologia - Sezione di Medicina Interna e Oncologia Clinica

REINO UNIDO

Cambridgeshire
CAMBRIDGE

REINO UNIDO

West Yorkshire
LEEDS

GCA Consortium - Clinical and immunogenetic characterization of Giant Cell Arteritis (GCA) and polymyalgia rheumatica (PMR)
Leeds Institute of Rheumatic and Musculoskeletal Medicine
Molecular Rheumatology Group

REINO UNIDO

West Yorkshire
LEEDS

REINO UNIDO

West Yorkshire
LEEDS

REINO UNIDO

West Yorkshire
LEEDS

SUICA

Suisse Alémanique
BASEL

Complement-dependent pathogenic mechanisms in systemic autoimmunity
Universitätsspital Basel
Klinische Immunologie

SUICA

Suisse Alémanique
BASEL

Projetos de investigação multicêntricos