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Forschungsprojekt(e)

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES
Treat vascular anomalies
de Duve Institute
Laboratory of Human Genetics

Greater London
LONDON
Genotype-phenotype correlation in rare lichenoid and scarring dermatoses and rare alopecias
King's College London
King's College London Headquarters

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

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

Baden-Württemberg
FREIBURG
MINION-EB: (Microbiome, INflammatIon & wOuNds in children with Epidermolysis bullosa) - Der Einfluss kutaner und systemischer Inflammation sowie von kutanem und enteralem Mikrobiom auf die Wachstumsentwicklungen von Kindern mit Epidermolysis bullosa: eine transversale monozentrische Studie
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum

Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

Baden-Württemberg
ULM
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

Bayern
MÜNCHEN
TREAT-HGPS: Erforschung neuer therapeutischer Strategien bei präklinischen Modellen des Hutchinson-Gilford-Progerie-Syndroms (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

Bayern
REGENSBURG
MSL LiQ: Multiple Symmetrische Lipomatose: Eine cross-sectional Studie zur Untersuchung von klinischen Parametern und Lebensqualität
Universitätsklinikum Regensburg
ZSER - Zentrum für Seltene Erkrankungen Regensburg

Bayern
WÜRZBURG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universität Würzburg - Biozentrum
Institut für Humangenetik

Hamburg
HAMBURG
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Farber-Krankheit (BioFarber): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG

Niedersachsen
GÖTTINGEN
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie

Sachsen
DRESDEN
Die Rolle des RNase Inhibitors 1 für die Pathogenese der systemischen Autoimmunität
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

Sachsen-Anhalt
MAGDEBURG
GeNeRARe: Deutsches Forschungsnetzwerk für RASopathie
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

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

AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

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

ILE-DE-FRANCE
COLOMBES
EPI: European Porphyria Initiative (coordination)
CHU Paris Nord-Val de Seine - Hôpital Louis Mourier
Centre Français des Porphyries

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

ILE-DE-FRANCE
PARIS
Basophils in Lupus: Mechanisms and Therapy.
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

ILE-DE-FRANCE
VILLEJUIF
Familial melanomas, multiple sporadic melanomas, melanomas and other cancers, and children melanomas: search for high-penetrance genes, study of low-penetrance candidate genes
CLCC Institut Gustave Roussy
Secteur de génétique constitutionnelle

PROVENCE-ALPES-COTE D'AZUR
NICE
Immuno-histochemical and molecular diagnosis of epidermolysis bullosa (COL17A1, PLEC1, LAMA3, LAMB3, LAMC2, COL7A1, ITGB4 and ITGA6 genes)
Faculté de médecine de Nice Sophia-Antipolis
Biologie et physiopathologie cutanée : expression génique, signalisation et thérapie

LAZIO
ROMA
Porphyrias: biochemical and genetical quality controls. Unusual signs and symptoms: hair shaft alteration.
IRCCS Istituto Dermatologico San Gallicano
S.S. Dipartimentale - Centro Porfirie e Malattie Rare

LOMBARDIA
MILANO
Genetic study for the diagnosis and treatment of patients with Porphyria
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio Divisionale - U.O.C. Medicina Generale

LOMBARDIA
MILANO
A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

PIEMONTE
TORINO
Role of PI3K/AKT in stratified epithelia stem cell
Università degli Studi di Torino
Centro di Biotecnologie Molecolari

JAPAN
KYOTO
Strategic research for the improvement of the ocular sequelae in SJS/TEN
Kyoto Prefectural University of Medicine
Department of Ophthalmology

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

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

TIROL
INNSBRUCK
Struktur des Neurofibromatose Typ 1 Proteins
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

WIEN
WIEN
Endothel Seneszenz in Progerie
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie

Region Stockholm
HUDDINGE
Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition

Region Uppsala
UPPSALA
Studies on the etiology and therapy of monogenetic dermatoses affecting the skin barrier
Akademiska Sjukhuset
Department of Medical Sciences, Dermatology and Venereology

Region Uppsala
UPPSALA
Genetic dissection of animal model for scleroderma
Uppsala University
Department of Medical Biochemistry and Microbiology

Region Västra Götaland
GÖTEBORG
Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine

Region Västra Götaland
GÖTEBORG
Genes in autoimmune disorders: Hashimoto struma and scleroderma
Göteborg University
Department of Rheumatology and Inflammation Research

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

Cataluña
ESPLUGUES DE LLOBREGAT
Characterize the behaviours and identify patterns of paediatric rare tumours
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Patients Engagement in Research Area

Madrid
MADRID
Predictors of morbidity and mortality in a cohort of inception of patients with sclerodermia
Hospital Universitario 12 de Octubre
Servicio de Reumatología

Madrid
MADRID
Impingement of calcineurin inhibitors on effector cytototoxic lymphocytes in Stevens-Johnson syndrome/toxic epidermal necrolysis and analysis of IL-15 as biomarker of the disease
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Área de enfermedades infecciosas e inmunidad

Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Treatment of acid ceramidase deficiency
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetics; pathophysiology; and treatment of dominant autoinflammatory diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Hutchinson-gilford progeria syndrome--a model for the genetics of aging
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanistic and therapeutic investigations of scleroderma
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 2: scleroderma-associated pulmonary arterial hypertension: the role of the oxidant state
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Elucidating the neuropathophysiology of tsc using genetically engineered human neurons
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Filamin a in tsc
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of synapse remodeling in tsc
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

Baden-Württemberg
FREIBURG
Eine prospektive, internationale, multizentrische Verlaufbeobachtungsstudie bei Patienten mit kombiniertem T-Zell Immundefekt (profound combined immunodeficiency : P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
MuTaEB : Mutations-gezielte Gen- und pharmakologische Therapien für Epidermolysis bullosa dystrophica und junctionalis (partner no 1)
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum

Baden-Württemberg
FREIBURG
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Autoimmunität gegen Desmocolline in Pemphigus (SP6)
Universitäts-Klinik für Dermatologie und Venerologie
Klinik für Dermatologie und Venerologie

Baden-Württemberg
FREIBURG
Epidemiologische Auswertung und immunologische Mechanismen im Rahmen der Pathogenese des M. Köhlmeier-Degos (Papulosis Atrophicans Maligna)
Venenzentrum Freiburg

Baden-Württemberg
TÜBINGEN
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Das angeborene Immunsystem bei Pemphigus vulgaris (SP3)
Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
Zentrum für Seltene Erkrankungen (ZSE) Tübingen

Baden-Württemberg
TÜBINGEN
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): T-Zell-abhängige Regulation autoreaktiver B-Zellen bei Pemphigus (SP2)
Universitäts-Hautklinik

Bayern
MÜNCHEN
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Desmoglein-abhängige Signalkomplexe bei Pemphigus (SP5)
Anatomische Anstalt der LMU München
Anatomische Anstalt - Lehrstuhl I

Hamburg
HAMBURG
Prospektive Anfangs-Kohortenstudie bei juveniler systemischer Sklerose
Schön Klinik Hamburg Eilbek
Hamburger Zentrum für Kinder- und Jugendrheumatologie

Hamburg
HAMBURG
Genetische und funktionelle Untersuchungen zum Microphthalmia with linear skin defects (MLS) - Syndrom
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

Hessen
GIEßEN
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Flotillin-Proteine bei der Regulation der desmosomalen Adhäsion beim Pemphigus (SP4)
Justus-Liebig-Universität Gießen
Institut für Biochemie - AG Prof. Dr. A. Bindereif

Hessen
MARBURG
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): T-Zell-abhängige Regulation autoreaktiver B-Zellen bei Pemphigus (SP2)
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Allergie-Zentrum Hessen / Klinik für Dermatologie und Allergologie

Hessen
MARBURG
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Humane Leukozyten Antigen (HLA)-transgene Mäuse als ein präklinisches Model für den Pemphigus vulgaris (SP1)
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Dermatologie und Allergologie

Niedersachsen
GÖTTINGEN
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

Saarland
HOMBURG
Beschreibung der klinischen Variabilität der okulären und kutanen Phänotypen bei Albinismus
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

Sachsen
CHEMNITZ
EXPLORE: Eine Studie zum natürlichen Krankheitsverlauf der akuten hepatischen Porphyrie (AHP) bei Patienten mit rezidivierenden Attacken
Klinikum Chemnitz gGmbH
Zentrum für Innere Medizin II

Sachsen
DRESDEN
Unkontrollierte Typ I-Interferonantworten in pädiatrischen autoinflammatorischen Erkrankungen mit Vaskulitis (TRR 237: Nukleinsäure-Immunität B18)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

Sachsen-Anhalt
DESSAU
Epidemiologische Auswertung und immunologische Mechanismen im Rahmen der Pathogenese des M. Köhlmeier-Degos (Papulosis Atrophicans Maligna)
Städtisches Klinikum Dessau
Klinik für Dermatologie, Venerologie und Allergologie / Immunologisches Zentrum

Schleswig-Holstein
LÜBECK
Bispezifische Antikörper zur Therapie der Epidermolysis bullosa acquisita
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

Schleswig-Holstein
LÜBECK
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

Schleswig-Holstein
LÜBECK
Die Bedeutung des Komplementsystems an der Pathogenese des Schleimhautpemphigoids
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

Schleswig-Holstein
LÜBECK
LiBPem-Studie: Adjuvante Therapie des schweren und / oder refraktären bullösen Pemphigoids mit Immunadsorption mittels LigaSorb®, Dapson, Prednisolon und topischem Mometasonfuroat
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Dermatologie, Allergologie und Venerologie

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

Schleswig-Holstein
LÜBECK
DPem: Dimethylfumarat zur Behandlung des bullösen Pemphigoids -DE-
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Lübecker Institut für Experimentelle Dermatologie

Schleswig-Holstein
LÜBECK
KFO 303: Pemphigoide Krankheiten - Molekulare Signalwege und ihr therapeutisches Potenzial
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Lübecker Institut für Experimentelle Dermatologie

Schleswig-Holstein
LÜBECK
Die Bedeutung des Komplementsystems an der Pathogenese des Schleimhautpemphigoids
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Lübecker Institut für Experimentelle Dermatologie

Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Unravelling POIKTMP pathophysiology for design of therapeutic approaches
Institution: Information not provided - FR

BOURGOGNE-FRANCHE-COMTE
DIJON
Molecular diagnosis of poikiloderma with neutropenia (C16ORF57 gene sequencing)
CHU de Dijon - Plateau technique de Biologie
Laboratoire de génétique chromosomique et moléculaire

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

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

ILE-DE-FRANCE
PARIS
Physio-pathological study of generalized pustular psoriasis: genetic and molecular characterization
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service de dermatologie

NORMANDIE
ROUEN
Study of B clone specific of Desmogleines and antigens of bullous pemphigoid
Faculté de médecine et de pharmacie de Rouen
Physiopathologie et biothérapies des maladies inflammatoires et auto-immunes

NORMANDIE
ROUEN
Study of genetic factors leading to appearance of pemphigus vulgaris, foliaceous and paraneoplastic
Faculté de médecine et de pharmacie de Rouen
Physiopathologie et biothérapies des maladies inflammatoires et auto-immunes

NORMANDIE
ROUEN
Animal and experimental models of pemphigus vulgaris, foliaceous and paraneoplastic
Faculté de médecine et de pharmacie de Rouen
Physiopathologie et biothérapies des maladies inflammatoires et auto-immunes

NOUVELLE AQUITAINE
BORDEAUX
Molecular analysis of patients affected by oculo-cutaneous albinism
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

NOUVELLE AQUITAINE
BORDEAUX
Study Congenital Giant Naevus: Psychology, Info-Com, Health, Transdisciplinarity, Ethics
Université Victor Segalen Bordeaux 2
EA4139 - Laboratoire de Psychologie « Santé et qualité de vie »

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

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

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

CAMPANIA
NAPOLI
Designing therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

LAZIO
ROMA
Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia

TOSCANA
FIRENZE
DESSCIPHER: Development and Prevention of Severe Heart Disease in Systemic Sclerosis (terminated)
AOU Careggi
S.O.D. di Reumatologia

TOSCANA
FIRENZE
DESSCIPHER: Development and prevention of pulmonary hypertension in systemic sclerosis (terminated)
AOU Careggi
S.O.D. di Reumatologia

TOSCANA
FIRENZE
Prevention and Treatment of Digital Ulcers in Systemic Sclerosis - IT (terminated)
AOU Careggi
S.O.D. di Reumatologia

JAPAN
AICHI
Development of innovative drug for generalized pustular psoriasis as deficiency of IL-36 receptor antagonist
Fujita Health University School of Medicine
Department of Dermatology

JAPAN
CHIBA
Evidence creation through nationwide surveillance of the progeria syndrome Werner syndrome and establishment ofa case registration system
Graduate School of Medicine, Chiba University

JAPAN
HOKKAIDO
A strategy to optimize treatment options for epidermolysis bullosa
Hokkaido University Hospital
Department of Dermatology

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
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAN
NIIGATA
Development of novel therapeutic drugs targeting specific cell death inducing receptor in severe drug eruption
Niigata University Graduate School of Medical and Dental Sciences
Department of Dermatology

JAPAN
TOKYO
Investigators initiated clinical trial of rituximab for steroid treatment-resistant pemphigus
Keio University School of Medicine
Department of Dermatology

JAPAN
TOKYO
Elucidation of molecular pathogenesis of SLC29A3 disorders
The Institute of Medical Science, The University of Tokyo
Division of Infectious Genetics

Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

Québec
QUÉBEC
Gene therapy for recessive dystrophic epidermolysis bullosa
Centre de recherche - Hôtel-Dieu de Québec
Centre de recherche du CHU de Québec/Université Laval

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

Suisse Alémanique
BERN
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497): Epitop-Spreading beim Pemphigus (SP7)
University Hospital Inselspital
Universitätsklinik für Dermatologie

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

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

Asturias
OVIEDO
Production of an advanced drug therapy for the treatment of rare epithelial diseases at an affordable cost for the National Health System.
Centro Comunitario de Sangre y Tejidos de Asturias

Cataluña
BARCELONA
Phenotypic-molecular characterization of the giant congenital nevus syndrome and its psychoemotional impact. Identification of clinical and genetic patterns related to melanoma
Hospital Clínic de Barcelona
Unidad de melanoma familiar

Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex traits
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Engineering disease-specific t cells for pemphigus therapy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Contribution of adipocytes and adipose secreted factors to fibrosis in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Eosinophils in bullous pemphigoid
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis (ssc) vasculopathy: improved clinical monitoring and treatment
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Systemic sclerosis-associated interstitial lung disease response index
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1 biomarkers of disease activity and progression in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 1: systemic sclerosis skin biomarkers & therapeutics
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Project 3: targeting pro-fibrotic e3 ligases in systemic sclerosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Translational immunology research: a support for clinical immunological research
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Protein trafficking in the endosomal-lysosomal system
Institution: Information not provided - US

Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics

Leicestershire
LEICESTER
Antibody Profiles in Inflammatory and Non-Inflammatory Bullous Pemphigoid
Leicester Univ. Hosp. NHS - Leicester Royal Infirmary
Dermatology Department

Lothian
EDINBURGH
Identification of genes for Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome, Meier-Gorlin syndrome and Dubowitz syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit

Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences

OOST-VLAANDEREN
GENT
Characterisation of genes and molecular mechanisms involved in hereditary connective tissue diseases by studying transgenic animal models and human tissues
Center for Medical Genetics Gent
Centrum voor Medische Genetica

Bayern
MÜNCHEN
Haarschaftanomalie Pili annulati: Whole Genome Untersuchung bei 5 Familien zum Auffinden des Genlokus
Klinik und Poliklinik für Dermatologie und Allergologie - Campus Innenstadt
Interdisziplinäres Zentrum für genetische und seltene Hautkrankheiten

Nordrhein-Westfalen
BAD OEYNHAUSEN
Molekularbiologische Diagnostik und Pathobiochemie des Pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin

GRAND-EST
STRASBOURG CEDEX
Rare Invisible Disease and Schooling of Children
ESPE de Strasbourg
Equipe Apprentissages, pratiques d'enseignement et d'éducation

ILE-DE-FRANCE
CRÉTEIL
Mechanisms of regulation of muscle stem cell quiescence by the extracellular matrix of the niche
CHU Henri Mondor

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

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

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

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

Ontario
GUELPH
Biophysics of cell fragility in epidermolysis bullosa simplex keratinocytes
Department of Integrative Biology

Groningen
GRONINGEN
Genetic therapy through exon-skipping for dystrophic epidermolysis bullosa
UMCG - Universitair Medisch Centrum Groningen
Afdeling Genetica

Vestlandet
BERGEN
A corrective therapy for acute intermittent porphyria
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

Vestlandet
BERGEN
The European Porphyria Registry: Natural history and treatment practices for acute intermittent porphyria patients in Europe
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

Vestlandet
BERGEN
Health related quality of life in PCT
Haukeland University Hospital
Nasjonalt kompetansesenter for porfyrisykdommer

Vestlandet
BERGEN
A corrective therapy for acute intermittent porphyria
University of Bergen
Department of Biomedicine

WIEN
WIEN
Neurobiologische Grundlagen der Depression bei akut intermittierender Porphyrie
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie

Madrid
LEGANÉS
MULTITEREB: Development and pre-clinical evaluation of advanced multimodal therapies for recessive dystrophic epidermolysis bullosa
Universidad Carlos III de Madrid - Campus de Leganés
Grupo de Ingeniería de Tejidos y Medicina regenerativa

Madrid
MADRID
Preclinical correction protocol for recessive dystrophic epidermolysis bullosa by gene editing in vivo humanised models
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
División de biomedicina epitelial

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

Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
National ophthalmic disease genotyping and phenotyping network - eyegene
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical and clinical studies of ntbc and other compounds as potential treatments for albinism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pre-clinical and clinical studies of ntbc as a potential treatment for albinism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The ige antibody response to dsg1 and environmental antigens in endemic pemphigus foliaceus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Addressing critical knowledge gaps in early diffuse scleroderma trial design
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Clinical research of oral connective tissue program
Institution: Information not provided - US

Nordrhein-Westfalen
AACHEN
POTSKog Studie Aachen: Erforschung von Konzentrations- und Aufmerksamkeitsdefiziten sowie deren Pathophysiologie beim Posturalen Orthostatischen Tachykardie Syndrom (POTS) und anderen autonomen Neuropathien
Universitätsklinikum Aachen
Klinik für Neurologie

Nordrhein-Westfalen
AACHEN
ProANS-Study: Autonome Neuropathie und ihre Pathophysiologie bei autoimmunen autonomen Neuropathien, dem Posturalen orthostatischen Tachykardie-Syndrom und Ehlers-Danlos-Syndromen: Periphere autonome Small-Fiber-Neuropathie oder zentral-autonomes Versagen?
Universitätsklinikum Aachen
Klinik für Neurologie

LAZIO
ROMA
Role of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

WIEN
WIEN
Molekulare Mechanismen der Plectin-Muskeldystrophie
Medizinische Universität Wien
Zentrum für Anatomie und Zellbiologie

Suisse Alémanique
ZÜRICH
Molecular Basis and Pathology of Connective Tissue Disorders
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

New York
NEW YORK
The Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study
The Ehlers-Danlos Society

Washington
ADDRESS: NOT PROVIDED - US
Proteins from hereditary eye diseases: in silico and experimental studies
Institution: Information not provided - US

WIEN
ADDRESS: NOT PROVIDED - AT
ABHD5 und PNPLA1 Funktion in der Haut
Institution: Information not provided - AT

Baden-Württemberg
FREIBURG
KLKIN : Netherton Syndrom: Von Mechanismen zur Therapie - DE (partner no 3)
Albert-Ludwigs-Universität Freiburg
Institut für Molekulare Medizin und Zellforschung

Baden-Württemberg
FREIBURG
Propekal5 : Unerforschte Aspekte in Peeling Skin Disease - Inhibition epidermaler Proteolyse zur Behandlung - DE (partner no 1)
Albert-Ludwigs-Universität Freiburg
Institut für Molekulare Medizin und Zellforschung

Nordrhein-Westfalen
BONN
Propekal5 : Unerforschte Aspekte in Peeling Skin Disease - Inhibition epidermaler Proteolyse zur Behandlung - DE (partner no 1)
Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
ERA-Net for research programs on rare diseases - Germany

ILE-DE-FRANCE
PARIS
Development of a new biotherapy targeting the inflammatory mechanisms of Netherton syndrome
IMAGINE - Institut des Maladies Génétiques
Equipe "Maladies génétiques cutanées: du mécanisme de la maladie aux thérapies"

LAZIO
ROMA
Netherton syndrome: from disease pathogenesis to improved diagnosis and patient care
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare
Multizentrische Forschungsprojekte
- University of Helsinki
- Molecular and Cancer Biology Research Unit
- Universitäts-Klinik für Dermatologie und Venerologie
- Epidermolysis bullosa-Zentrum
- Universitäts-Klinik für Dermatologie und Venerologie
- Epidermolysis bullosa-Zentrum
- ZMBE - Zentrum für Molekularbiologie der Entzündung
- EUSCLE e.V. Sekretariat
- CLCC Léon Bérard
- Consultation neurofibromatoses
- Faculté de médecine - RTH Laënnec
- Métabolomique et maladies métaboliques
- Institut de Biologie et Chimie des Protéines
- LBTI - Laboratoire de Biologie Tissulaire et Ingénierie thérapeutique
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- Unité de Médecine interne, Maladies Auto-immunes et Pathologie Vasculaire
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
- S.C. Laboratorio di Oncologia Sperimentale
- AOU Careggi
- S.O.D. di Reumatologia
- UMCG - Universitair Medisch Centrum Groningen
- Afdeling Dermatologie
- Institution: Information not provided - PL
- Hospital Clínico Universitario de Santiago
- Servicio de Reumatología
- Department of Health
- St James's University Hospital
- Cancer Research UK Clinical Centre, Cancer Genetics Building
- Kerckhoff-Klinik GmbH
- Abteilung für Rheumatologie und klinische Immunologie
- Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
- Klinik für Dermatologie und Allergologie
- Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
- Klinik für Dermatologie und Allergologie
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
- Lübecker Institut für Experimentelle Dermatologie
- CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- MATHEC - Maladies Auto-Immunes et Thérapie Cellulaire
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- AOU Careggi
- Dipartimento di Chirurgia e Medicina Traslazionale
- UMCG - Universitair Medisch Centrum Groningen
- Afdeling Dermatologie
- Centre Hospitalier Universitaire Vaudois CHUV
- Service de recherche en oncologie
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
- Hôpital Necker-Enfants Malades
- Service de Génétique Moléculaire
- CIMA - Centro de Investigación Médica Aplicada
- Centro de Investigación Médica Aplicada
- Hôpital Necker-Enfants Malades
- Service de Génétique Moléculaire
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- University of Patras, School of Health Sciences
- Department of Pharmacy

Finland
HELSINKI
LYMPHANGIOGENOMICS: genome-wide discovery and functional analysis of novel genes in lymphangiogenesis (FINISHED)

Baden-Württemberg
FREIBURG
KINDLERNET: International Kindler syndrome network

Baden-Württemberg
FREIBURG
EBThera: Repurposing biomolecules for the treatment of epidermolysis bullosa

Nordrhein-Westfalen
MÜNSTER
EUSCLE : Europäische Gesellschaft für kutanen Lupus Erythematosus

AUVERGNE-RHONE-ALPES
LYON
NF-France Network

AUVERGNE-RHONE-ALPES
LYON
Réseau sur les maladies de surcharge lysosomales

AUVERGNE-RHONE-ALPES
LYON
ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)

ILE-DE-FRANCE
PARIS
French research group on scleroderma

ILE-DE-FRANCE
PARIS
Réseau sur les neurofibromatoses

ILE-DE-FRANCE
PARIS
Réseau sur le syndrome de Rothmund Thomson

ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses

EMILIA ROMAGNA
BOLOGNA
Research group of the Italian Sarcoma Group

TOSCANA
FIRENZE
EUSTAR: EULAR scleroderma trials and research group

Groningen
GRONINGEN
EB: identification of revertant mosaicism in epidermolysis bullosa and subsequently using the revertant keratinocytes in a pre-clinical mouse model suitable to test revertant cell therapy (COMPLETED)

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

Galicia
SANTIAGO DE COMPOSTELA
Humoral cellular and genetic mechanisms in arthris

Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway

West Yorkshire
LEEDS
GenoMEL : the Melanoma Genetics Consortium

Hessen
BAD NAUHEIM
DESSCIPHER: Europäisches Forschungsprojekt zur Therapieoptimierung der Systemischen Sklerose

Hessen
MARBURG
PEMPHIGUS: from autoimmunity to disease

Hessen
MARBURG
PEGASUS: Pemphigus - von der Pathogenese zu den Therapeutika (FOR 2497)

Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen

Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening

Schleswig-Holstein
LÜBECK
DPem : Dimethylfumarate for the treatment of bullous pemphigoid

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

CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes

TOSCANA
FIRENZE
Multiple Endocrine Neoplasia Network

Groningen
GRONINGEN
SpliceEB: Splicing therapies for Dystrophic Epidermolysis Bullosa

Suisse Romande
LAUSANNE
TheraLymph: Therapeutic approaches for treatment of hereditary lymphedema

West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource

West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource

ILE-DE-FRANCE
PARIS
THERAPEUSKIN: European network on gene therapy of hereditary epidermolysis bullosa (FINISHED)

Navarra
PAMPLONA
AIPgene: Augmenting PBGD expression in the liver as a Novel Gene therapy for Acute Intermittent Porphyria (TERMINATED)

ILE-DE-FRANCE
PARIS
Réseau sur le syndrome de Netherton et les ichtyoses lamellaires

ILE-DE-FRANCE
PARIS
KLKIN : Netherton Syndrome: From mechanisms to therapeutics

GREECE
PATRAS