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Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberiDysChart: Charting key molecules and mechanisms of human immune Dysregulation
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberProtein transport into and across cellular membranes
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

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

HAUTS-DE-FRANCE
LILLE

Set up of SAP component scintigraphy for diagnosis and follow-up of amyloidosis
CHRU de Lille - Hôpital Claude Huriez
Service de médecine interne

FRANCE

HAUTS-DE-FRANCE
LILLE

Set up of SAP component scintigraphy for diagnosis and follow-up of amyloidosis
CHRU de Lille - Hôpital Roger Salengro
Service de Médecine nucléaire et imagerie fonctionnelle

FRANCE

ILE-DE-FRANCE
BOULOGNE-BILLANCOURT

GERMANY

Nordrhein-Westfalen
ESSEN

Evaluation of Video-assisted Instructions of Nasal Self-packing in Patients With HHT
Universitätsklinikum Essen
Klinik für Hals-Nasen und Ohrenheilkunde

GERMANY

Sachsen-Anhalt
DESSAU

Epidemiology and immunologic mechanism in the pathogenesis of malignant atrophic papulosis (Degos disease)
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Biology of cystatins: development of new drugs against amyloidosis based upon the structure of cystatin C
Seoul National University Hospital
Molecular Diagnostics Laboratory

NETHERLANDS

Utrecht
NIEUWEGEIN

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

PORTUGAL

SUL
LISBOA

Protein glycation and transthyretin amyloidogenesis in yeast: A model system of neurodegenerative amyloid diseases.
Faculdade de Ciências da Universidade de Lisboa
Laboratório de Enzimologia

SPAIN

Andalucía
CÓRDOBA

Funded by an IRDiRC memberIdentification 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

SPAIN

Castilla - León
SALAMANCA

SPAIN

Comunidad Valenciana
VALENCIA

Validation of biomarkers for diagnosis and prognosis of neonatal sepsis
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Madrid
MADRID

Genetic diagnosis of hereditary hemorrhagic telangiectasia (HHT): the HHT genome
Centro de Investigaciones Biológicas (CSIC)
Biología Celular y Molecular

SWEDEN

Region Uppsala
UPPSALA

Pathophysiological studies on AA, AL and TTR amyloidoses
Uppsala Universitet
Department of immunology, Genetics and Pathology, IGP

UNITED KINGDOM

Greater Manchester
SALFORD

The UK Calciphylaxis Study
Salford Royal NHS Foundation Trust

BELGIUM

OOST-VLAANDEREN
GENT

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

FINLAND

Finland
HELSINKI

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

ILE-DE-FRANCE
PARIS

Epidemiological, Clinical and Etiological Features of SUSAC's Syndrome (CARESS)
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de médecine interne

FRANCE

PROVENCE-ALPES-COTE D'AZUR
AIX-EN-PROVENCE

Funded by an IRDiRC memberPsychosocial consequences of systemic lupus erythematosus: a study of patients and their spouses
Aix-Marseille Université
Laboratoire de Psychologie Sociale (LPS) - EA 849

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberIgG4 in inflammatory neuropathies: pathogenic effects and novel targets
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberReDox: Repurposing doxycycline in the treatment of AL amyloidosis - DE
Zentrum für Innere Medizin (Krehl-Klinik)
Abteilung Innere Medizin V - Hämatologie, Onkologie und Rheumatologie

GERMANY

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

GERMANY

Berlin
BERLIN

Investigation of relevant biomarkers in patients with susac syndrome
Charité - Universitätsmedizin Berlin (CCM)
NeuroCure Clinical Research Center - AG Klinische Neuroimmunologie

GERMANY

Hamburg
HAMBURG

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

GERMANY

Niedersachsen
HANNOVER

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

GERMANY

Nordrhein-Westfalen
MÜNSTER

Susac syndrome (SuS) as a paradigm of a CD8 T-cell mediated endotheliopathy
Universitätsklinikum Münster
Klinik für Neurologie mit Institut für Translationale Neurologie

GERMANY

Schleswig-Holstein
KIEL

Funded by an IRDiRC memberGAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

GERMANY

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberDESSCIPHER: Development and Prevention of Severe Heart Disease in Systemic Sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberDESSCIPHER: Development and prevention of pulmonary hypertension in systemic sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberPrevention and Treatment of Digital Ulcers in Systemic Sclerosis - IT (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

JAPAN

JAPAN
KUMAMOTO

Funded by an IRDiRC memberThe investigation on the efficacy of new low molecular compound for systemic sclerosis
Faculty of Life Sciences, Kumamoto University
Department of Dermatology and Plastic Surgery

NORWAY

Østlandet
OSLO

Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberUrinary biomarkers for the non-invasive diagnosis of kidney disease in systemic autoimmune diseases
GENYO - Genómica e Investigación Oncológica
Grupo de Genética de enfermedades complejas

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberChimeric 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

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberProfile 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

SWITZERLAND

Suisse Alémanique
BASEL

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

SWITZERLAND

Suisse Alémanique
BERN

ATTR Amyloidosis in Elderly Patients With Aortic Stenosis
University Hospital Inselspital
Universitätsklinik für Kardiologie

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInnate immune activation in autoimmune myopathy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMouse models for systems therapeutics degenerative diseases
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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: systemic sclerosis skin biomarkers & therapeutics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: targeting pro-fibrotic e3 ligases in systemic sclerosis
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 memberTargeting janus kinases in the treatment of autoimmune disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

TIROL
INNSBRUCK

Funded by an IRDiRC memberTTRACK: Prevalence and Characteristics of Transthyretin Amyloidosis in Patients With Left Ventricular Hypertrophy of Unknown Etiology - AT
Medizinische Universität Innsbruck
Universitätsklinik für Innere Medizin III - Kardiologie und Angiologie

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberOxidative stress: the main pathogenic process in myositis?
Institution: Information not provided - FR

ITALY

CAMPANIA
CASERTA

PORTUGAL

NORTE
PORTO

Dissecting nerve regeneration and the neuritogenic activity of TTR
Instituto de Biologia Molecular e Celular
Nerve Regeneration Group

PORTUGAL

NORTE
PORTO

Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
PORTO

Therapies in familial amyloidotic polyneuropathy
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

PORTUGAL

NORTE
PORTO

Molecular basis of nervous system dysfunction on amyloid neuropathies
Instituto de Biologia Molecular e Celular
Unidade de Neurobiologia Molecular

PORTUGAL

SUL
LISBOA

TTR amyloid fibril formation in vivo - Looking beyond genetic factors
Faculdade de Ciências da Universidade de Lisboa
Laboratório de Enzimologia

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberSporadic inclusion body myositis: development of new cellular models for biomarkers identification and therapeutic strategies
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

SPAIN

Madrid
MAJADAHONDA

Funded by an IRDiRC memberCharacterization and early detection of atrial arrhythmias and conduction disorders in transthyretin cardiac amyloidosis
Hospital Universitario Puerta de Hierro - Majadahonda
Servicio de Cardiopatías Familiares

SWEDEN

Region Stockholm
ADDRESS: NOT PROVIDED - SE

SWEDEN

Region Stockholm
STOCKHOLM

Funded by an IRDiRC memberHistidyl tRNA synthetase – Connecting lungs to muscle inflammation
Karolinska Institutet - Solna
Department of Medicine

SWEDEN

Region Västerbotten
UMEÅ

Mechanistic and structural elucidation of amyloid and its cytotoxic propensity
Umeå University
Department of medical biochemistry and biophysics

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberJuvenile myositis
Institution: Information not provided - US

Multicentric Research projects