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Research projects
CANADA
Ontario
GUELPH
Biophysics of cell fragility in epidermolysis bullosa simplex keratinocytes
Department of Integrative Biology
UNITED KINGDOM
Tayside
DUNDEE
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
University of Dundee
School of Life Sciences
GERMANY
Baden-Württemberg
FREIBURG
MINION-EB (Microbiome, INflammatIon & wOuNds in children with Epidermolysis bullosa) - The influence of cutaneous and systemic inflammation as well as cutaneous and enteral microbiom on growth development in children with epidermolysis bullosa: a transverse monocentric study
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum
ITALY
PIEMONTE
TORINO
Role of PI3K/AKT in stratified epithelia stem cell
Università degli Studi di Torino
Centro di Biotecnologie Molecolari
NORWAY
Østlandet
OSLO
Når barnet fødes med en sjelden huddiagnose: En eksplorerende undersøkelse om hvordan diagnosen påvirker tilknytning og omsorgsutøvelse
Oslo Universitetssykehus HF, Rikshospitalet
SSD - Senter for sjeldne diagnoser
SWEDEN
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
AUSTRIA
WIEN
WIEN
Molecular mechanisms of plectin-related muscular dystrophy
Medizinische Universität Wien
Zentrum für Anatomie und Zellbiologie
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF
Dermatologie
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
JAPAN
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
JAPAN
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Universitäts-Klinik für Dermatologie und Venerologie
- Epidermolysis bullosa-Zentrum
- UMCG - Universitair Medisch Centrum Groningen
- Afdeling Dermatologie
- Istituto Dermopatico dell'Immacolata - IRCCS
- Laboratorio di Biologia Molecolare e Cellulare
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
FRANCE
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - amélioration des soins de santé et assistance sociale pour les patients et les familles touchées par les génodermatoses sévères
GERMANY
Baden-Württemberg
FREIBURG
EBThera: Repurposing biomolecules for the treatment of epidermolysis bullosa
NETHERLANDS
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)
ITALY
LAZIO
ROMA
GENESKIN: European network on rare genetic skin diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES