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Funded by an IRDiRC member =

Research projects

FRANCE

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

CANADA

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

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberMuTaEB : Mutation-targeted gene and pharmacological therapies for dystrophic and junctional Epidermolysis Bullosa (partner no 1)
Universitäts-Klinik für Dermatologie und Venerologie
Epidermolysis bullosa-Zentrum

GERMANY

Sachsen
LEIPZIG

Large scale genomic deletions in mice to identify specific keratin functions
TRM Universität Leipzig
Translationszentrum für Regenerative Medizin (TRM) Leipzig

ITALY

LAZIO
ROMA

Clinical variability in inherited epidermolysis bullosa: primary defects and modifying genes
Istituto Dermopatico dell'Immacolata - IRCCS
Laboratorio di Biologia Molecolare e Cellulare

AUSTRIA

SALZBURG
SALZBURG

Identifying miRNA key players shaping epidermolysis bullosa
Universitätsklinikum der Paracelsus Medizinischen Privatuniversität
EB-Haus Austria

FRANCE

BRETAGNE
RENNES

Funded by an IRDiRC memberXenopus epidermis development in the search for modifier genes of epidermolysis bullosa
Faculté de médecine de Rennes
Institut de Génétique et Développement de Rennes - UMR6290

ITALY

PIEMONTE
TORINO

Funded by an IRDiRC memberRole of PI3K/AKT in stratified epithelia stem cell
Università degli Studi di Torino
Centro di Biotecnologie Molecolari

SWEDEN

Landstinget i Uppsala län
UPPSALA

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

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : 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

Funded by an IRDiRC memberFROGH : 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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Multicentric Research projects