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Forschungsprojekt(e)
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
REPLICA: Real Patient Life Treatment With Cabozantinib in Patients With Advanced or Metastatic RCC: A Descriptive and Prospective Non-Interventional Study
Institution: Information not provided - BE
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
ADDRESS: NOT PROVIDED - BE
CASSIOPE: Prospective Non Interventional Study of Cabozantinib Tablets in Adults With Advanced Renal Cell Carcinoma Following Prior Vascular Endothelial Growth Factor (VEGF)-Targeted Therapy - BE
Institution: Information not provided - BE
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Universitair Ziekenhuis Brussel
Pediatric neurology / Neurologie Kinderen
DEUTSCHLAND
Baden-Württemberg
FREIBURG
Die Rolle von CCL2 in der Nephronophthise und der autosomal dominanten polyzystischen Nierenerkrankung (ADPKD)
Zentrum für Klinische Forschung am Universitätsklinikum Freiburg
Nephro Lab - Walz Laboratory
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
DEUTSCHLAND
Bayern
WÜRZBURG
MALTA-FABRY: MigALastat Therapie-Erhaltung bei FABRY-Patienten: Eine prospektive multizentrische Beobachtungsstudie
Universität Würzburg
DEUTSCHLAND
Bayern
WÜRZBURG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universität Würzburg - Biozentrum
Institut für Humangenetik
DEUTSCHLAND
Bayern
WÜRZBURG
MALTA-FABRY: MigALastat Therapie-Erhaltung bei FABRY-Patienten: Eine prospektive multizentrische Beobachtungsstudie
Universitätsklinikum Würzburg
ZESE - Zentrum für Seltene Erkrankungen (ZSE) - Referenzzentrum Nordbayern
DEUTSCHLAND
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
DEUTSCHLAND
Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
DEUTSCHLAND
Hessen
LANGEN
Präklinische Gentherapie von Fanconi-Anämie mit transposon-basierten Ansätzen
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Farbry-Krankheit (BioFabry): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
DEUTSCHLAND
Mecklenburg-Vorpommern
ROSTOCK
BioTyrosin - Biomarker der Tyrosinämie Typ 1: Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
DEUTSCHLAND
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie
DEUTSCHLAND
Saarland
HOMBURG
Deutsches Netzwerk Nierenzelltumoren: Genetische Analyse der Ductus-Bellini-Karzinome
Universitätsklinikum des Saarlandes
Klinik für Urologie und Kinderurologie
DEUTSCHLAND
Sachsen
LEIPZIG
High-throughput Mutationsanalyse für bekannte und neuartige monogene Nierensteinleiden und verwandte Störungen
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie
FRANKREICH
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
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
REVOLUTION: Prediction of Nivolumab action in metastatic renal cancer patients: Treg function, tumoral access and NK interaction as predictive biomarkers of immunotherapy - FR
CLCC Léon Bérard
Centre Léon Bérard
FRANKREICH
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
FRANKREICH
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
FRANKREICH
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
FRANKREICH
ILE-DE-FRANCE
PARIS
Pheno2Geno: Regulation of NKCC2 and NCC by Protein-Protein interactions: From salt losing tubulopathies to salt sensitive hypertension - FR
Centre de Recherches des Cordeliers (CRC)
Equipe "Métabolisme et Physiologie Rénale"
FRANKREICH
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
ITALIEN
CAMPANIA
NAPOLI
Role of phosphoinositide metabolism in the structure and function of the Golgi complex and in the pathogenesis of Lowe syndrome
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALIEN
LOMBARDIA
SAN DONATO MILANESE
Effect of Migalastat on Cardiac Involvement in Fabry Disease
IRCCS Policlinico San Donato
U.O. Imaging Cardiaco Multimodale
ITALIEN
MARCHE
ANCONA
Incidence, Clinical Management and Molecular Factors Associated With the Development of Immune-related Adverse Events in Cancer Patients Receiving PD-1 and PD-L1 Inhibitors: a Prospective Observational Study
Università Politecnica delle Marche - Polo Didattico
Istituto di Clinica Medica
ITALIEN
SICILIA
PALERMO
Study of enzymatic and genetic alterations in Fabry disease for diagnosis purpose
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze
JAPAN
JAPAN
KYOTO
Development of novel therapeutics of cardiac Fabry disease with the splicing modifier compound.
Kyoto University Graduate School of Medicine
Department of Anatomy and Developmental Biology
JAPAN
JAPAN
TOKYO
Screening 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
KANADA
Alberta
EDMONTON
Indentification and characterization of Merlin interacting proteins
University of Alberta
Department of Medical Genetics
KANADA
Ontario
TORONTO
The FACTs Project: FAbry disease Clinical research and Therapeutics
Toronto General Hospital
University Health Network (UHN)
NIEDERLANDE
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
NORWEGEN
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
OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
CASSIOPE: Prospective Non Interventional Study of Cabozantinib Tablets in Adults With Advanced Renal Cell Carcinoma Following Prior Vascular Endothelial Growth Factor (VEGF)-Targeted Therapy - AT
Institution: Information not provided - AT
OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
CABOCARE: Prospective Non-interventional Study of Cabozantinib in Patients With Advanced or Metastatic Renal Cell Carcinoma Under Real-life Clinical Setting in 1st Line Treatment - AT
Institution: Information not provided - AT
OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
Robot-assisted Partial Nephrectomy Versus Laparoscopic Partial Nephrectomy: A Prospective, Randomised, Single-blind Trial Comparing Two Surgical Techniques
Institution: Information not provided - AT
OSTERREICH
WIEN
WIEN
ADONIS: Axitinib In Advanced / Metastatic Renal Cell Carcinoma - A Non-Interventional Study Of Real World Treatment Outcomes In Patients Receiving 2nd Line Axitinib After 1st Line Sunitinib - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Onkologie
OSTERREICH
WIEN
WIEN
NeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel
PORTUGAL
NORTE
PORTO
Prevalence of Fabry Disease (FD) in individuals at risk (patients with kidney dysfunction, submitted to haemodialysis; young patients with stroke; patients with left ventricular hypertrophy)
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
PORTUGAL
NORTE
PORTO
Fabry disease- an immunological study
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
PORTUGAL
SUL
LISBOA
Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation in Young Patients With Fabry Disease: An Epidemiological, International, Multicenter Prognosis Study
Hospital S. José
Unidade Cerebrovascular
REPUBLIK KOREA
KOREA, REPUBLIC OF
KOREA
Factors associated with chronic and severe status of rare disease and health-related quality of life among rare disease patients
Korea National Institute of Health
REPUBLIK KOREA
KOREA, REPUBLIC OF
KOREA
Integrative study of epigenetic variations in rare diseases
Korea National Institute of Health
REPUBLIK KOREA
KOREA, REPUBLIC OF
SEOUL
Establishment and operation of the clinical research network for rare glomerular diseases
Yonsei University College of Medicine
SCHWEDEN
Region Skåne
LUND
Bacterial virulence factors, innate immunity and prothrombotic mechanisms in renal disease
Skånes Universitetssjukhus
Department of Clinical Sciences, Division of Pediatrics
SCHWEDEN
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SCHWEIZ
Suisse Alémanique
BERN
Thrombotic thrombocytopenic purpura - role of ADAMTS13 and long-term outcome
University Hospital Inselspital
Department of Hematology and Central Hematology Laboratory
SPANIEN
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
SPANIEN
Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica
SPANIEN
Andalucía
SEVILLA
Biomedical 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
SPANIEN
Cataluña
BARCELONA
Prediction models in autosomal dominant hereditary nephropathies
Fundació Puigvert
Servicio de Nefrología
SPANIEN
Cataluña
BARCELONA
Improved treatment of lysosomal deposition diseases using optimized nanometric vehicles
Vall d'Hebron Institut de Recerca VHIR
CIBBIM-Nanomedicina. Direccionamento y Liberación Farmacológica
SPANIEN
Extremadura
BADAJOZ
Surgical Treatment of Pancreatic Metastases From Renal Cell Carcinoma
Hospital Universitario de Badajoz
Servicio de Cirugía Hepatobiliopancreática
SPANIEN
Galicia
SANTIAGO DE COMPOSTELA
Strategic action in Galicia 2.0 for hereditary kidney disease: genetic diagnosis and establishment of a galician register of patients, a cost/efficient prevention measure
Hospital Clínico Universitario de Santiago
Fundación Pública Galega de Medicina Xenómica
SPANIEN
Galicia
VIGO
Study of immunitary system dysfunction in Fabry Disease
Hospital Álvaro Cunqueiro
Grupo de Patología neonatal, Pediatría, Enfermedades Raras
SPANIEN
Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Departamento de Bioquímica, Genética e Inmunología
SPANIEN
Madrid
MADRID
Effects of the non-peptide agonist of the thrombopoietin receptor (Eltrombopag) in the hematopoiesis of patients with Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SPANIEN
Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética
SPANIEN
Navarra
PAMPLONA
Advanced 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
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Human biochemical genetics
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Elucidating the neuropathophysiology of tsc using genetically engineered human neurons
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Filamin a in tsc
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of synapse remodeling in tsc
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Opposing pathways in mammalian sex determination
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Exome sequencing in disorders of sex development: impact on patients and families
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Greater London
LONDON
The role of transcription factors in regulating expression of BBS (Bardet-Biedl Syndrome) proteins
GOSH NHS Foundatin Trust
Molecular Medicine Unit
VEREINIGTES KONIGREICH
Oxfordshire
OXFORD
Translating genomic signatures in kidney cancer into patient care
University of Oxford
Oxford University Offices
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
BELGIEN
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: rare disorders of the distal convoluted tubule (WP4)
Cliniques universitaires Saint-Luc - UCLouvain
Laboratory of Nephrology
BELGIEN
VLAAMS BRABANT
LEUVEN
Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
Analyse der Auswirkungen des MRKH-Syndroms auf die körperliche, soziale und psychische Gesundheit
Universitäts-Frauenklinik Tübingen
Frauenklinik
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
Untersuchung des histologischen und immunhistochemischen Aufbaus der Uterusrudimente von MRKH-Patientinnen
Universitäts-Frauenklinik Tübingen
Frauenklinik
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
Analyse der Auswirkungen des MRKH-Syndroms auf die körperliche, soziale und psychische Gesundheit
ViTa-Gebäude Talklinikum
Abteilung Psychosomatische Medizin und Psychotherapie am Universitätsklinikum Tübingen
DEUTSCHLAND
Baden-Württemberg
ULM
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab
DEUTSCHLAND
Berlin
BERLIN
CLC Cl-Kanäle und Transporter in grundlegenden zellulären Prozessen und pathologischen Zuständen
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
DEUTSCHLAND
Berlin
BERLIN
Molekulare Genetik der autosomal-dominanten Hypertonie mit Brachydaktylie Typ E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems
DEUTSCHLAND
Hamburg
HAMBURG
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
Untersuchungen zur Pathogenese des Kabuki Syndroms, insbesondere im Hinblick auf eine mögliche gemeinsame Pathogenese zum CHARGE Syndrom
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie
DEUTSCHLAND
Nordrhein-Westfalen
BAD OEYNHAUSEN
Molekularbiologische Diagnostik und Pathobiochemie des Pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin
DEUTSCHLAND
Nordrhein-Westfalen
BONN
Luto-Studie: Systematische Untersuchung der molekularen Ursachen bei Kongenitalen Uro-Rektalen Malformationen für Probanden und Angehörige mit LUTO (Lower Urinary Tract Obstruction)
Universitätsklinikum Bonn (AöR)
Institut für Humangenetik
DEUTSCHLAND
Nordrhein-Westfalen
BONN
Luto-Studie: Systematische Untersuchung der molekularen Ursachen bei Kongenitalen Uro-Rektalen Malformationen für Probanden und Angehörige mit LUTO (Lower Urinary Tract Obstruction)
Universitätsklinikum Bonn (AöR)
Universitätsklinikum Bonn
DEUTSCHLAND
Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II
DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie
FINNLAND
Finland
TURKU
Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine
FRANKREICH
AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKREICH
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKREICH
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
FRANKREICH
CENTRE-VAL DE LOIRE
ORLÉANS
First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose
FRANKREICH
ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant
FRANKREICH
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
FRANKREICH
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
FRANKREICH
ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
FRANKREICH
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
FRANKREICH
PAYS DE LA LOIRE
ANGERS
Structure-function relationship of the TSH receptor and of the related receptors
CHU d'Angers
UF de Biologie Moléculaire
FRANKREICH
PAYS DE LA LOIRE
ANGERS
Ca-Art-PXE2 study - Impact of the arterial wall calcification on the lower limb arterial stiff ness in the pseudoxanthoma elasticum.
CHU d'Angers
Service de dermatologie et vénéréologie
ITALIEN
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
ITALIEN
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
ITALIEN
LAZIO
ROMA
Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
ITALIEN
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
ITALIEN
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIEN
LIGURIA
GENOVA
Functional and structural studies of human CLC chloride proteins involved in genetic diseases
Consiglio Nazionale delle Ricerche
Istituto di Biofisica
ITALIEN
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
ITALIEN
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
ITALIEN
UMBRIA
PERUGIA
Development of a small-molecule therapy for PH1 based on the combined administration of B6 vitamers and pharmacological chaperones
Università degli Studi di Perugia
Dipartimento di Medicina Sperimentale
ITALIEN
VENETO
ZELARINO
Towards 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
ITALIEN
VENETO
ZELARINO
Advanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
JAPAN
JAPAN
FUKUOKA
Establishment of high evidence level for revision of guideline ofAllied Disorders of Hirschsprung's disease
Kyushu University Faculty of Medical Sciences
Department of Pediatric Surgery
JAPAN
JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics
JAPAN
JAPAN
NAGASAKI
Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University
Department of Human Genetics
JAPAN
JAPAN
TOKYO
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine
JAPAN
JAPAN
TOKYO
Study for the improvement of diagnosis and treatment by an integral approach of atypical hemolytic uremic syndrome (aHUS)
The University of Tokyo Hospital
Department of Nephrology and Endocrinology
JAPAN
JAPAN
TOKYO
Providing evidence for the integrated physical, psychological, and social support of adolescents and young adults (AYA) with intractable diseases by focusing on 22q11.2 deletion syndrome as the model
The University of Tokyo Hospital
Department of Neuropsychiatry
KANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
KANADA
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
NIEDERLANDE
Gelderland
NIJMEGEN
HNF1ß: master regulator of cilia formation and electrolyte homeostasis in ADTKD-HNF1ß patients
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
NIEDERLANDE
Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
OSTERREICH
TIROL
INNSBRUCK
Struktur des Neurofibromatose Typ 1 Proteins
Medizinische Universität Innsbruck
Sektion für Biologische Chemie
PORTUGAL
SUL
LISBOA
Functional and genetic analysis of WNK protein kinases involved in Gordon syndorme
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Unidade de Investigação e Desenvolvimento
SCHWEDEN
Region Stockholm
HUDDINGE
Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SPANIEN
Baleares
PALMA DE MALLORCA
Identification of the signaling pathways that allow the correction of congenital heart disease "in utero" in a natural way. Bases for prenatal therapy
Hospital Universitario Son Espases
Unidad de Diagnostico Molecular y Genética Clinica
SPANIEN
Cataluña
BARCELONA
Systems biology for the discovery of pathophysiological mechanisms and therapeutic targets in primary familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Hospital Universitari Vall d'Hebron
Servicio de Nefrología Pediátrica
SPANIEN
Madrid
MADRID
Quantitative 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
VEREINIGTE STAATEN
Connecticut
CHESHIRE
CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry)
Alexion Pharmaceuticals, Inc.
VEREINIGTE STAATEN
South Dakota
SIOUX FALLS
The cellular functions of Notch signaling that prevent the renal cysts associated with the Alagille Syndrome and Hadju-Cheney Syndrome
Sanford Research
Surendran Lab
VEREINIGTE STAATEN
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Systematic whole genome analyses of the cardiopharyngeal gene regulatory network in a simple chordate.
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical and genetic studies of vacterl association
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genomic analysis in genes responsible for eye abnormalities in patients
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
A zebrafish model of phenotypic variation associated with fraser syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genes for non-syndromic congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic modifiers of congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Mouse functional analysis of genes for congenital heart disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project: genetic basis of intellectual disability in 22q11.2 deletion syndrome
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1: genetic mechanisms for conotruncal heart malformations
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Tyne & Wear
NEWCASTLE UPON TYNE
The Role of Membrane Attack Complex in Atypical Haemolytic Uraemic Syndrome
Institute of Cellular Medicine, Newcastle University, Medical School
Institute of Cellular Medicine
DEUTSCHLAND
Baden-Württemberg
TÜBINGEN
ESPED-Studie: Omphalozelen und assoziierte Fehlbildungen bei Neu- und Frühgeborenen
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
DEUTSCHLAND
Bayern
MÜNCHEN
Die Rolle Kinase-gekoppelter TRP-Kanäle in der Mg2+-Homöostase: Von Mausmodellen zu menschlicher Erkrankung (TRR 152: P15)
Walther-Straub-Institut für Pharmakologie und Toxikologie der LMU München
Walther-Straub-Institut für Pharmakologie und Toxikologie
DEUTSCHLAND
Mecklenburg-Vorpommern
GREIFSWALD
Mutationsspektrum und klinische Symptomatik bei Patienten mit genetisch bedingten Hämostasestörungen
Institut für Humangenetik der Universitätsmedizin Greifswald
Institut für Humangenetik
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
Europäisches Alport-Therapieregister
Universitätsmedizin Göttingen
Klinik für Nephrologie und Rheumatologie
DEUTSCHLAND
Niedersachsen
GÖTTINGEN
Bedeutung der Interaktion von Schlitzmembran, Podozyt und glomerulärer Basalmembran bei der Pathogenese von glomerulären Nierenerkrankungen wie dem Alport Syndrom
Universitätsmedizin Göttingen
Klinik für Nephrologie und Rheumatologie
FRANKREICH
AUVERGNE-RHONE-ALPES
PRAGUE
Role on Nonmuscle Myosin II in membrane trafficking and organ function
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANKREICH
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
FRANKREICH
ILE-DE-FRANCE
PARIS
T-JUST: Tight junctions: from structure to treatment - FR
Centre de Recherches des Cordeliers (CRC)
Equipe "Métabolisme et Physiologie Rénale"
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
MNaims : 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"
NIEDERLANDE
Gelderland
NIJMEGEN
The magnesium journey through the renal cell: how to get out?
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
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
SCHWEDEN
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
SPANIEN
Madrid
ALCORCÓN
Deciphering the role of factor-H related proteins in complement-related kidney diseases
Hospital Universitario Fundación Alcorcón
Servicio de Nefrología
SPANIEN
Madrid
MADRID
Deciphering 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
SPANIEN
País Vasco
BARAKALDO
FIGHT-CNNM2: For Improving diagnostics and Grasping the disease mechanisms of rare Hypomagnesemia in patients with CNNM2 mutations
Hospital Universitario Cruces
Unidad de Trastornos Congénitos del Metabolismo
SPANIEN
País Vasco
DERIO
FIGHT-CNNM2: For Improving diagnostics and Grasping the disease mechanisms of rare Hypomagnesemia in patients with CNNM2 mutations
Centro de Investigación Cooperativa en Biociencias (CIC bioGUNE)
Liver Disease Lab
VEREINIGTES KONIGREICH
Greater London
LONDON
The genetic causes of Nephrotic syndrome
Evelina London Children's Hospital
Paediatric Nephrology
VEREINIGTES KONIGREICH
Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
ReDox : Repurposing von Doxycyclin zur Behandlung von Patienten mit AL-Amyloidose -DE-
Zentrum für Innere Medizin (Krehl-Klinik)
Abteilung Innere Medizin V - Hämatologie, Onkologie und Rheumatologie
DEUTSCHLAND
Bayern
ERLANGEN
STOP-FSGS: Lösliche Faktoren bei FSGS
Internistisches Zentrum des Universitätsklinikums Erlangen
Medizinische Klinik 4 - Nephrologie und Hypertensiologie
DEUTSCHLAND
Hamburg
HAMBURG
Prospektive Anfangs-Kohortenstudie bei juveniler systemischer Sklerose
Schön Klinik Hamburg Eilbek
Hamburger Zentrum für Kinder- und Jugendrheumatologie
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
Genomische Analysen und Entwicklung epigenetischer Biomarker bei Steroid-resistentem nephrotischem Syndrom (KFO 329)
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
Die Bedeutung einer gestörten Schlitzmembran-Signaltransduktion bei der Entstehung der FSGS (KFO 329)
Universitätsklinikum Köln
Klinik II für Innere Medizin - Nephrologie, Rheumatologie, Diabetologie und allgemeine Innere Medizin
DEUTSCHLAND
Sachsen-Anhalt
DESSAU
Diagnostische Kriterien der Behçet-Krankheit
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum
DEUTSCHLAND
Sachsen-Anhalt
DESSAU
Epidemiologie der Behçet-Krankheit in Deutschland
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum
DEUTSCHLAND
Sachsen-Anhalt
DESSAU
Prognostische Kriterien der Behçet-Krankheit
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum
DEUTSCHLAND
Schleswig-Holstein
LÜBECK
Generierung und Charakterisierung eines Antikörper-basierten Mausmodells für die systemische Sklerose
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Rheumatologie und Klinische Immunologie
FRANKREICH
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
FRANKREICH
AUVERGNE-RHONE-ALPES
BRON
Genetic transmission of familial forms of sarcoidosis
CHU de Lyon HCL - GH Est-Hôpital Louis Pradel
Service de pneumologie
FRANKREICH
ILE-DE-FRANCE
MONTROUGE
Vasorin: Role of Vasorin in the kidney, bone and arterial crosstalk - FR
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496
FRANKREICH
ILE-DE-FRANCE
PARIS
Evaluation and treatement of scleroderma
CHU Paris Est - Hôpital Saint-Antoine
Service de médecine interne
FRANKREICH
ILE-DE-FRANCE
PARIS
FMFgeneToDiag : 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
FRANKREICH
ILE-DE-FRANCE
PARIS
Genetransnephrose: 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"
ITALIEN
CAMPANIA
NAPOLI
DESSCIPHER: Development and Prevention of Severe Heart Disease in Systemic Sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia
ITALIEN
CAMPANIA
NAPOLI
DESSCIPHER: Development and prevention of pulmonary hypertension in systemic sclerosis (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia
ITALIEN
CAMPANIA
NAPOLI
Prevention and Treatment of Digital Ulcers in Systemic Sclerosis - IT (terminated)
AOU Università degli Studi della Campania "Luigi Vanvitelli"- Cappella Cangiani
Divisione di Reumatologia
ITALIEN
LOMBARDIA
BERGAMO
Unravelling the role of PAX2 mutations in human Focal Segmental Glomerulosclerosis
IRCCS Mario Negri - Centro Anna Maria Astori
Dipartimento Medicina Molecolare
ITALIEN
LOMBARDIA
RANICA
Identification 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
ITALIEN
TOSCANA
FIRENZE
DESSCIPHER: Development and Prevention of Severe Heart Disease in Systemic Sclerosis (terminated)
AOU Careggi
S.O.D. di Reumatologia
ITALIEN
TOSCANA
FIRENZE
DESSCIPHER: Development and prevention of pulmonary hypertension in systemic sclerosis (terminated)
AOU Careggi
S.O.D. di Reumatologia
ITALIEN
TOSCANA
FIRENZE
Prevention and Treatment of Digital Ulcers in Systemic Sclerosis - IT (terminated)
AOU Careggi
S.O.D. di Reumatologia
JAPAN
JAPAN
ADDRESS : NOT PROVIDED - JP
Development research to solve inflammasome transmission abnormality of familial Mediterranean fever by genome drug discovery
Institution: Information not provided - JP
JAPAN
JAPAN
AICHI
The establishment of novel diagnostic methods for adult nephrotic syndrome.
Nagoya University Graduate School of Medicine
Division of Nephrology
JAPAN
JAPAN
KUMAMOTO
The investigation on the efficacy of new low molecular compound for systemic sclerosis
Faculty of Life Sciences, Kumamoto University
Department of Dermatology and Plastic Surgery
JAPAN
JAPAN
NAGASAKI
Investigation of Adult Still's disease in precision medicine to create evidences that facilitate the revision of diagnostic criteria through nation-wide clinical research network
Nagasaki University Graduate School of Biomedical Sciences
Department of Immunology and Rheumatology
KANADA
Ontario
TORONTO
The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis
Hospital for Sick Children, Research Institute
NIEDERLANDE
Utrecht
NIEUWEGEIN
Genetic predisposition to interstitital lung diseases and disease phenotypes
St. Antonius Ziekenhuis, locatie Nieuwegein
Longcentrum
NIEDERLANDE
Utrecht
UTRECHT
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg
NIEDERLANDE
Zuid-Holland
LEIDEN
GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde
OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
An Observational Long-Term Safety Surveillance Study of Participants from Corbus Sponsored Lenabasum Pivotal Clinical Trials - AT
Institution: Information not provided - AT
SCHWEIZ
Suisse Alémanique
ZÜRICH
Rescue from fatal multiorgan fibrosis in systemic sclerosis- novel insights: targeting specific stromal and myeloid cell populations
UniversitätsSpital Zürich
Klinik für Rheumatologie
SPANIEN
Andalucía
GRANADA
Urinary biomarkers for the non-invasive diagnosis of kidney disease in systemic autoimmune diseases
GENYO - Genómica e Investigación Oncológica
Grupo de Genética de enfermedades complejas
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Juvenile myositis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic analysis of complex inflammatory disorders
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetics; natural history; and pathophysiology of behcet's disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetics; pathophysiology; and treatment of recessive autoinflammatory diseases
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Genetic; cellular and molecular mechanisms in autoimmunity to retina
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Immunogenetic mechanisms in behcet's disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Contribution of adipocytes and adipose secreted factors to fibrosis in systemic sclerosis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis (ssc) vasculopathy: improved clinical monitoring and treatment
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis-associated interstitial lung disease response index
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Animal care: supporting research on pathogenesis and treatment of autoimmunity
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Connective tissue diseases/inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Immunopathogen autoimmune inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis of behcet's disease and still's disease
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1 biomarkers of disease activity and progression in systemic sclerosis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 1: systemic sclerosis skin biomarkers & therapeutics
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Project 3: targeting pro-fibrotic e3 ligases in systemic sclerosis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Translational immunology research: a support for clinical immunological research
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Avon
BRISTOL
MICA: Signalling pathways to proteinuria - part II. Establishment of b3 integrin and TRPC6 as tractable renal disease targets
University of Bristol
University of Bristol HQ
VEREINIGTES KONIGREICH
Cambridgeshire
CAMBRIDGE
Pathogenic mechanisms and effects of treatment in chronic, idiopathic inflammatory myopathies, myositis
University of Cambridge
Department of Medicine
VEREINIGTES KONIGREICH
Greater London
LONDON
Sub-phenotyping in juvenile dermatomyositis (JDM), a rare and serious autoimmune childhood disorder, within the UK JDM Cohort and Biomarker Study: from phenotype to stratified treatments
GOSH NHS Foundatin Trust
Juvenile Dermatomyositis Research Centre
VEREINIGTES KONIGREICH
Greater London
LONDON
Understanding the lived experience and psychosocial needs of children and young people with Juvenile Dermatomyositis: a mixed methods study
GOSH NHS Foundatin Trust
Great Ormond Street Hospital
VEREINIGTES KONIGREICH
Greater London
LONDON
Development of an assessment tool for the measurement of fatigue and endurance in children with Juvenile Dermatomyositis
GOSH NHS Foundatin Trust
Rheumatology Unit
VEREINIGTES KONIGREICH
Greater London
LONDON
An international survey of physiotherapy interventions in the management of Juvenile Dermatomyositis
GOSH NHS Foundatin Trust
Rheumatology Unit
DEUTSCHLAND
Bayern
MÜNCHEN
Etablierung von Oberflächenplasmonenresonanz (SPR) Tests zur verbesserten Diagnostik von Autoimmunerkrankungen
Klinikum rechts der Isar der Technischen Universität München
Arbeitsgruppe Biosensorik
FRANKREICH
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
IRLAND
County Dublin
DUBLIN
Urinary sCD163 as a biomarker in crescentic glomerulonephritis
Trinity College Dublin
Trinity Translational Medicine Institute
ITALIEN
LAZIO
ROMA
Identification 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
ITALIEN
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
JAPAN
JAPAN
TOKYO
Promotion of Japanese IgA nephropathy prospective cohort study to improve the reliability and validity of Japanese classifications of histological grade, clinical severity and dialysis induction risk; the development of treatment to protect high risk patients from progression to end-stage kidney disease
The Jikei University Hospital
Clinical Training Center
OSTERREICH
WIEN
ADDRESS: NOT PROVIDED - AT
SABLE: A 5-Year Prospective Observational Registry to Assess Adverse Events of Interest and Effectiveness in Adults With Active, Autoantibody-Positive Systemic Lupus Erythematosus Treated With or Without BENLYSTA (Belimumab) - AT
Institution: Information not provided - AT
SCHWEIZ
Suisse Alémanique
BASEL
Complement-dependent pathogenic mechanisms in systemic autoimmunity
Universitätsspital Basel
Klinische Immunologie
SCHWEIZ
Suisse Alémanique
BASEL
Longitudinal Imaging in Patients With Large Vessel Vasculitis to Predict Further Disease Course
Universitätsspital Basel
Rheumatologie
SPANIEN
Andalucía
ARMILLA
Identification of functionally relevant genetic variants associated with GCA - ES
Instituto de Parasitología y Biomedicina "López-Neyra"
Bases genéticas de las enfermedades autoinmunes
SPANIEN
Andalucía
ARMILLA
Identification 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
SPANIEN
Andalucía
CÓRDOBA
Identification 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
SPANIEN
Cantabria
SANTANDER
Characterization of molecular bases of IgA-mediated vasculitis
IDIVAL: Instituto de Investigación Marqués de Valdecilla
Grupo de Epidemiología genética y arterioesclerosis en enfermedades inflamatorias sistémicas
SPANIEN
Cataluña
BARCELONA
Systems biology and bioinformatics approaches to provide a holistic understanding of GCA biology - ES
Anaxomics Biotech SL - Barcelona
SPANIEN
Cataluña
BARCELONA
Gene expression profile in CD4 + T lymphocytes of patients with eosinophilic granulomatosis with polyangiitis or Churg-Straus syndrome
Hospital Clínic de Barcelona
Servicio de Enfermedades Autoinmunes
SPANIEN
Cataluña
BARCELONA
Functional 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
SPANIEN
Cataluña
BARCELONA
Chimeric 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
SPANIEN
Comunidad Valenciana
VALENCIA
Profile 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
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Direct regulation of extracellular proteostasis by the unfolded protein response
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Addressing critical knowledge gaps in early diffuse scleroderma trial design
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the takayasu arteritis genetic risk in rps9/lilrb3
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Nasal microbiome and host immunity in granulomatosis with polyangiitis
Institution: Information not provided - US
VEREINIGTE STAATEN
Washington
ADDRESS: NOT PROVIDED - US
Biomarkers of pulmonary complications of scleroderma: the ssc-pah and
Institution: Information not provided - US
VEREINIGTES KONIGREICH
Cambridgeshire
CAMBRIDGE
An integrated genetic and proteomic approach to understanding cardiovascular disease aetiology
University of Cambridge
Department of Medicine
VEREINIGTES KONIGREICH
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
VEREINIGTES KONIGREICH
West Yorkshire
LEEDS
Clinical and Immunogenetic Characterization of Giant Cell Arteritis (GCA) and Polymyalgia Rheumatica (PMR)
University of Leeds
Leeds institute of clinical trials
VEREINIGTES KONIGREICH
West Yorkshire
LEEDS
MICA: Treatment According to Response in Giant cEll arTeritis (TARGET)
University of Leeds
The University of Leeds
VEREINIGTES KONIGREICH
West Yorkshire
LEEDS
Linking public and GCA datasets to identify novel pathogenic pathways -GB
University of Leeds
The University of Leeds
Multizentrische Forschungsprojekte
- CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
- Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
- CLCC Léon Bérard
- Consultation neurofibromatoses
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Centre de Recherches des Cordeliers (CRC)
- Equipe "Métabolisme et Physiologie Rénale"
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- IMAGINE - Institut des Maladies Génétiques
- Equipe "Base moléculaire des maladies rénales héréditaires: néphronophtise et hypodysplasie"
- Institution: Information not provided - IT
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
- Laboratorio di Nefrologia - Divisione di Nefrologia e Dialisi
- Institution: Information not provided - PL
- Universitat Autònoma de Barcelona
- Grupo de inestabilidad genómica y reparación del DNA
- CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
- Terapias innovadoras en el sistema hematopoyético
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Institut für Humangenetik am Universitätsklinikum Köln
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Institut Pasteur
- Génétique du Développement Humain - CNRS UMR3738
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Adienne S.R.L.
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
- Hospital Universitario de Canarias
- Servicio de Anatomía Patológica
- The Mount Sinai School of Medicine
- Department of pediatric endocrinology
- Department of Health
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Nephrology
- Centre de Recherches des Cordeliers (CRC)
- Equipe "Complément et Maladies"
- Centre de Recherches des Cordeliers (CRC)
- Equipe "Métabolisme et Physiologie Rénale"
- IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
- Equipe "Physiopathologie moléculaire des phospholipases A2 & de leurs médiateurs"
- Fondazione IRCCS Policlinico San Matteo
- Clinica Medica III
- Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Kerckhoff-Klinik GmbH
- Abteilung für Rheumatologie und klinische Immunologie
- Universitätsklinikum Aachen
- Klinik für Nieren- und Hochdruckkrankheiten, rheumatologische und immunologische Erkrankungen (Med. Klinik II)
- Universitätsklinikum Aachen
- Klinik für Nieren- und Hochdruckkrankheiten, rheumatologische und immunologische Erkrankungen (Med. Klinik II)
- Université Paris Descartes - UFR Odontologie
- Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496
- CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
- Physiopathologie Des Maladies Génétiques d'Expression Pédiatrique - Inserm UMRS_933
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- MATHEC - Maladies Auto-Immunes et Thérapie Cellulaire
- Groupe hospitalier AP-HP.6 - Hôpital Tenon
- INSERM UMRS 1155 "Des maladies rénales aux maladies fréquentes, remodelage et réparation"
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Ospedale San Giuseppe
- Il Polmone.it - Malattie Rare Polmonari
- Fondazione IRCCS Policlinico San Matteo
- Dipartimento di Medicina Molecolare
- GOSH NHS Foundatin Trust
- Rheumatology Unit
- GOSH NHS Foundatin Trust
- Rheumatology Unit
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Alder Hey Children's Hospital
- Department of Rheumatology
FRANKREICH
AUVERGNE-RHONE-ALPES
GRENOBLE
French network for genetic, cellular and clinical researches on Lowe syndrome
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
NF-France Network
FRANKREICH
AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales
FRANKREICH
ILE-DE-FRANCE
PARIS
Pheno2Geno: Regulation of NKCC2 and NCC by Protein-Protein interactions: From salt losing tubulopathies to salt sensitive hypertension
FRANKREICH
ILE-DE-FRANCE
PARIS
Réseau néphronophtise et maladie kystique de la médullaire
FRANKREICH
ILE-DE-FRANCE
PARIS
Néphropathies kystiques du foetus et syndromes apparentés
FRANKREICH
ILE-DE-FRANCE
PARIS
Réseau sur les neurofibromatoses
FRANKREICH
ILE-DE-FRANCE
PARIS
AnBiCyst : Functional characterization of ANKS6/ANKS3/BICC1 complex and implication in cystic kidney diseases
ITALIEN
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
REVOLUTION: Prediction of Nivolumab action in metastatic renal cancer patients: Treg function, tumoral access and NK interaction as predictive biomarkers of immunotherapy
ITALIEN
LAZIO
ROMA
NTS study: Novel Therapies for Cystinosis
POLEN
Kraków
ADDRESS: NOT PROVIDED - PL
EPISTOP: Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy - tuberous sclerosis complex
SPANIEN
Cataluña
BELLATERRA
Spanish Fanconi Anemia research network
SPANIEN
Madrid
MADRID
Spanish Fanconi Anemia research network
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
DEUTSCHLAND
Nordrhein-Westfalen
KÖLN
ERAdicatPH: Understanding primary hyperoxaluria type 1 towards the development of innovative therapeutic strategies
DEUTSCHLAND
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANKREICH
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
FRANKREICH
ILE-DE-FRANCE
PARIS
Réseau national d'étude du pseudohermaphrodisme masculin et autres troubles de développement sexuel
FRANKREICH
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses
ITALIEN
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
ITALIEN
CAMPANIA
NAPOLI
22q11.2 deletion syndrome: Novel approaches to understand cardiopharyngeal pathogenesis
ITALIEN
LOMBARDIA
CAPONAGO
PRATH: preclinical study of recombinant human anti-C5 for the treatment of atypical hemolytic uremic syndrome (TERMINATED)
ITALIEN
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
SPANIEN
Canarias
LA CUESTA
Oxaleurope: European hyperoxaluria consortium
VEREINIGTE STAATEN
New York
NEW YORK
RGSDC: Rare Genetic Steroid Disorders Consortium
VEREINIGTES KONIGREICH
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
VEREINIGTES KONIGREICH
West Midlands
BIRMINGHAM
European Paediatric Research for Hemolytic Uremic Syndrome (HUS)
FRANKREICH
ILE-DE-FRANCE
PARIS
COMPC3: Molecular mechanisms of the pathological stabilization of the complement system C3 convertase and its therapeutic control
FRANKREICH
ILE-DE-FRANCE
PARIS
T-JUST: Tight junctions: from structure to treatment
FRANKREICH
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
MNaims : Molecular dissection of PLA2R1-related membranous nephropathy: towards a portfolio of new clinical biomarkers
ITALIEN
LOMBARDIA
PAVIA
EUPLANE: EUropean PLAtelet NEtwork for studying physiopathology of two inherited thrombocytopenias, THC2 and MYH9-RD, characterized by genetic alterations of RUNX1-target genes
DEUTSCHLAND
Baden-Württemberg
HEIDELBERG
PODONET: consortium for clinical, genetic and experimental research into hereditary diseases of the podocyte
DEUTSCHLAND
Hessen
BAD NAUHEIM
DESSCIPHER: Europäisches Forschungsprojekt zur Therapieoptimierung der Systemischen Sklerose
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
Rare-G: The Epidermal Growth Factor System in Rare Glomerular Disease: From Molecular Mechanisms to Therapeutics
DEUTSCHLAND
Nordrhein-Westfalen
AACHEN
STOP-FSGS: Speed Translation-Oriented Progress to diagnose and treat focal segmental glomerulosclerosis (FSGS)
FRANKREICH
ILE-DE-FRANCE
MONTROUGE
Vasorin: Role of Vasorin in the kidney, bone and arterial crosstalk
FRANKREICH
ILE-DE-FRANCE
PARIS
FMFgeneToDiag : Familial Mediterranean Fever (FMF) and FMF-like diseases: From genetics to functional diagnostic tests
FRANKREICH
ILE-DE-FRANCE
PARIS
NISSC-2 : Post AHSCT (Autologous Hematopoietic Stem Cell Transplantation) management for patients with systemic sclerosis: a prospective, non-interventional approach across Europe
FRANKREICH
ILE-DE-FRANCE
PARIS
Genetransnephrose: Genetic and translational studies in patients with steroid sensitive nephrotic syndrome
FRANKREICH
ILE-DE-FRANCE
PARIS
Research Network on Corticosteroid Nephrotic Syndromes
ITALIEN
LOMBARDIA
MILANO
Il Polmone.it - Malattie Rare Polmonari
ITALIEN
LOMBARDIA
PAVIA
ReDox : Repurposing doxycycline in the treatment of AL amyloidosis
VEREINIGTES KONIGREICH
Greater London
LONDON
ENJD: European Network for Juvenile Dermatomyositis
VEREINIGTES KONIGREICH
Greater London
LONDON
Juvenile Dermatomyositis Research Group (JDRG)
VEREINIGTES KONIGREICH
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
VEREINIGTES KONIGREICH
Merseyside
LIVERPOOL