Orphanet: Search by disease/gene
x

Search for a research project

* (*) mandatory field

108 Result(s)

Sort by

Funded by an IRDiRC member =

Research projects

IRELAND

County Dublin
DUBLIN

Irish Kidney Gene Project
Beaumont Hospital
Kidney Centre

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberRole on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

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

FRANCE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Funded by an IRDiRC memberMNaims : 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"

GERMANY

Mecklenburg-Vorpommern
GREIFSWALD

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

GERMANY

Niedersachsen
GÖTTINGEN

European Alport therapy registry
Universitätsmedizin Göttingen
Klinik für Nephrologie und Rheumatologie

PORTUGAL

NORTE
PORTO

Alport Syndrome: Clinical and molecular study of Portuguese families
Faculdade de Medicina da Universidade do Porto
Unidade de Investigação e Desenvolvimento de Nefrologia

PORTUGAL

NORTE
PORTO

LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF))
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

UNITED KINGDOM

Greater London
LONDON

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

CANADA

Ontario
TORONTO

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

ILE-DE-FRANCE
MONTROUGE

Funded by an IRDiRC memberVasorin: Role of Vasorin in the kidney, bone and arterial crosstalk - FR
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

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

Funded by an IRDiRC memberFMFgeneToDiag : 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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGenetransnephrose: 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"

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

Hamburg
HAMBURG

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

GERMANY

Nordrhein-Westfalen
KÖLN

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

GERMANY

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

GERMANY

Sachsen-Anhalt
DESSAU

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

GERMANY

Sachsen-Anhalt
DESSAU

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

GERMANY

Sachsen-Anhalt
DESSAU

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

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

LOMBARDIA
BERGAMO

Funded by an IRDiRC memberUnravelling the role of PAX2 mutations in human Focal Segmental Glomerulosclerosis
IRCCS Mario Negri - Centro Anna Maria Astori
Dipartimento Medicina Molecolare

ITALY

LOMBARDIA
RANICA

Funded by an IRDiRC memberIdentification 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

JAPAN

JAPAN
AICHI

Funded by an IRDiRC memberThe establishment of novel diagnostic methods for adult nephrotic syndrome.
Nagoya University Graduate School of Medicine
Division of Nephrology

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

NETHERLANDS

Utrecht
NIEUWEGEIN

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic analysis of complex inflammatory disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetics; natural history; and pathophysiology of behcet's disease
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

Funded by an IRDiRC memberImmunogenetic mechanisms in behcet's disease
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

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 memberPathogenesis of behcet's disease and still's disease
Institution: Information 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

AUSTRIA

TIROL
INNSBRUCK

Funded by an IRDiRC memberPersTIgAN: Personalized Treatment in IgA Nephropathy - AT
Medizinische Universität Innsbruck
Universitätsklinik für Innere Medizin IV - Nephrologie und Hypertensiologie

FRANCE

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

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

IRELAND

County Dublin
DUBLIN

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

ITALY

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

SPAIN

Andalucía
ARMILLA

Funded by an IRDiRC memberIdentification of functionally relevant genetic variants associated with GCA - ES
Instituto de Parasitología y Biomedicina "López-Neyra"
Bases genéticas de las enfermedades autoinmunes

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberFunctional 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

SWITZERLAND

Suisse Alémanique
BASEL

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

SWITZERLAND

Suisse Alémanique
BASEL

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

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

UNITED KINGDOM

West Yorkshire
LEEDS

UNITED KINGDOM

West Yorkshire
LEEDS

UNITED KINGDOM

West Yorkshire
LEEDS

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects