Epithelial Adhesion - Specialized Centers

AUSTRIA
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Salzburger Landeskliniken
Molecular Dermatology/EB House Austria
Müllner Hauptstraße 48
5020 Salzburg
Austria
Prof. Dr. Johann Bauer
Katrin Neubauer

k.neubauer@salk.at
Outpatient clinic for Epithelial Adhesion Disorders

Salzburger Landeskliniken/Molecular Dermatology
Diagnostic Laboratory
Müllner Hauptstraße 48
5020 Salzburg
Austria
Prof. Dr. Johann Bauer
Mag. Alfred Klausegger
A.Klausegger@salk.at
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Electron microscopy of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Molecular diagnosis of Epithelial Adhesion Disorders

Salzburger Landeskliniken/Molecular Dermatology
Laboratory for Molecular Therapy/EB House Austria
Müllner Hauptstraße 48
5020 Salzburg
Austria
Prof. Dr. Johann Bauer
Mag. Alfred Klausegger
A.Klausegger@salk.at
Project title: Developing Spliceosome Mediated RNA Trans-Splicing (SMaRT) for Gene Therapy in Epidermolysis Bullosa Dystrophica Patients
Project title: Collagen 17A1 Gene Correction Using Spliceosome Mediated RNA Trans-splicing (SMaRT™) Technology
Project title: Therapy of nonsense associated mutations in the LAMB3 gene by modulation of the eukaryotic splicing machinery via antisense-strategy and coupled in vitro luminescence read-out assays
Project title: 5` Spliceosome Mediated RNA Trans-Splicing gene-therapy for Plectin Deficient Epidermolysis Bullosa Patients
Project title: Screening for functional pre-trans-splicing molecules for gene therapy of EB-patients

CZECH REPUBLIC
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of Pediatric Dermatology
Children's Hospital - Faculty Hospital Brno, Masaryk University Brno
Genodermatoses Center
Cernopolni 9
66263 Brno
Czech Republic
Hana Buckova Assist. Prof., MD., Ph.D.
buckova.hana@fnbrno.cz
Blanka Pinková MD
pinkova.blanka@fnbrno.cz
Jana Kýrová MD., Ing.
jana.kyrova@email.cz
Outpatient clinic for Genodermatoses or rare diseases
Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
Jihlavská 20
62500 Brno
Czech Republic
Lenka Fajkusová, Assist. Prof., Ph.D.
fajkusova.lenka@fnbrno.cz
Lenka Kopecková, Ph.D.
kopeckova.lenka@fnbrno.cz
Romana Borská, Mgr.
borska.romana@fnbrno.cz
Molecular diagnosis of Genodermatoses and rare diseases
 

Department of Pathology
St. Anne´s University Hospital
Pekarska 53
656 91 Brno
Czech Republic
Dr. Karel Vesely
karel.vesely@fnusa.cz
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)
Electron microscopy of Epithelial Adhesion Disorders (all Epidermolysis bullosa types)

Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
Jihlavská 20
62500 Brno
Czech Republic
Lenka Fajkusová, Assist. Prof., Ph.D.
fajkusova.lenka@fnbrno.cz
Lenka Kopecková, Ph.D.
kopeckova.lenka@fnbrno.cz
Romana Borská, Mgr.
borska.romana@fnbrno.cz
Molecular diagnosis of Genodermatoses and rare diseases
FRANCE
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Centre de Référence Maladies Rares de la Peau et des Muqueuses d'Origine Génétique
Service de Dermatologie - Hôpital de l'Archet 3
151 Route Saint Antoine de Ginestière
CS 23079
06202 Nice Cedex 3
France
Dr. Christine Chiaverini
Dr. Thomas Hubiche
Alexandra Charlesworth
 
Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases
CHU de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie Raba Léon, Bordeaux France 33076 cedex
Prof. Alain Taïeb
alain.taieb@chu-bordeaux.fr
Dr. Fanny Morice-Picard
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

 

Necker hospital for sick children
Departments of Genetics
INSERM U781
Tour Lavoisier 3rd floor
149 rue de Sèvres
75743 Paris cedex 15
France
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Outpatient clinic for Genodermatoses or rare diseases

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres
Paris
75015 France
Prof. Bodemer Christine
Christine.Bodemer@nck.aphp.fr
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

 

IRCAN-Faculté de Médecine, 9e étage
28, Ave de Valombrose
06107 Nice cedex 2
France
Alexandra Charlesworth
Alexandra.Charlesworth@unice.fr
Histology/ Immunohistochemistry of Epidermolysis bullosa, major types and subtypes
Molecular diagnosis of Epidermolysis bullosa,  major types and subtypes

 

Necker hospital for sick children
Department of Genetics
INSERM U781
Tour Lavoisier, 3rd floor
149 rue de Sèvres
75743 Paris cedex 15
France
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, dominant
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Histology/ Immunohistochemistry of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Dowling-Meara
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Koebner
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, Weber-Cockayne
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with mottled pigmentation
Histology/ Immunohistochemistry of Epidermolysis bullosa simplex, with muscular dystrophy
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation
Molecular diagnosis of Epidermolysis bullosa simplex, with muscular dystrophy

 

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Necker hospital for sick children
Department of Genetics
INSERM U781
Tour Lavoisier, 3rd floor
149 rue de Sèvres
75743 Paris cedex 15
France
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr
Research activities on: Gene therapy
Research activities on: Gene therapy, modifying genes
Research activities on: Pathophysiology

INSERM U634
27 ave Valombrose
06107 Nice cedex 2
France
Dr. Guerrino Meneguzzi
Carole Langueneur
languene@unice.fr
Research activities on: Skintherapy
Research activities on: Gene therapy of junctional epidermolysis bullosa

MAGEC centre, Dermatology department
INSERM U393, department of Genetics
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
Paris
France
75015
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr

 

GERMANY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Zentrum für ektodermale Dysplasien am Universitätsklinikum Erlangen
Loschgestraße 15
91054 Erlangen
Germany
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
zeder@uk-erlangen.de
 

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
Germany
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Allergy
Charitéplatz 1
Berlin
10117 Germany
Prof. Ulrike Blume-Peytavi
Dr. Karola Stieler
karola.stieler@charite.de
Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

Center for Rare and Genetic Skin Diseases
Department of Dermatology
Ludwig-Maximilian University Munich
Hauptstraße 7
80337 Munich
Germany
Prof. Dr. med. Kathrin Giehl
Outpatient clinic for genodermatoses and rare skin diseases
Outpatient clinic for Pediatric Dermatology


 

Abteilung für Molekulare Pädiatrie am Universitätsklinikum Erlangen
Loschgestraße 15
91054 Erlangen
Germany
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
zeder@uk-erlangen.de

 

Center for Human Genetics Freiburg
SYNLAB MVZ Humangenetik Freiburg GmbH
Heinrich-von-Stephan-Str. 5
Freiburg
79100 Germany
Prof. Dr. Jürgen Kohlhase, MD
juergen.kohlhase@synlab.com
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

 

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
Germany

Prof. Dr. Cristina Has

cristina.has@uniklinik-freiburg.de

eb-zentrum@uniklinik-freiburg.de

Histology/ Immunohistochemistry of Epithelial Adhesion disorders
All EB types and subtypes

 

Institute of Human Genetics
University Clinic of Freiburg
Breisacher Str. 33
79106 Freiburg i. Br.
Germany
Prof. Dr. med. Dr. Judith Fischer

judith.fischer@uniklinik-freiburg.de
Prof. Dr. Cristina Has (collaboration)
Mutation diagnosis for all EB genes

 
 
Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH
EM-Labor
Im Neuenheimer Feld 224
69120 Heidelberg
Dr. rer. nat. Ingrid Haußer-Siller
Ingrid.Hausser-Siller@med.uni-heidelberg.de

 

Abteilung für Molekulare Pädiatrie am Universitätsklinikum Erlangen
Loschgestraße 15
91054 Erlangen
Germany
Prof. Dr. med. Holm Schneider
holm.schneider@uk-erlangen.de
zeder@uk-erlangen.de
basic and clinical research on epidermolysis bullosa

 

University Freiburg - Medical Center
Department of Dermatology
Hauptstraße 7
79104 Freiburg i. Br.
Germany
Prof. Leena Bruckner-Tuderman
sabine.acker-heinig@uniklinik-freiburg.de
Research activities on: Epidermolysis bullosa dystrophic, dominant
Research activities on: Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, pretibialis
Research activities on: Epidermolysis bullosa dystrophic, pruriginosa
Research activities on: Epidermolysis bullosa junctional, Herlitz
Research activities on: Epidermolysis bullosa junctional, non-Herlitz
Research activities on: Kindler syndrome

 

HUNGARY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Dept. of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
H-1085 Hungary
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa dystrophic, dominant
Molecular diagnosis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular diagnosis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa simplex, Dowling-Meara
Molecular diagnosis of Epidermolysis bullosa simplex, Koebner
Molecular diagnosis of Epidermolysis bullosa simplex, Weber-Cockayne
Molecular diagnosis of Epidermolysis bullosa simplex, with mottled pigmentation

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Kristina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Project title: Genotype-phenotype correlation analysis in Hungarian cases of genodermatoses (Epidermolysis bullosa)
Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses (Epidermolysis bullosa)

 

IRELAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Department of Dermatology
Our Lady's Children's Hospital
Crumlin
Dublin 12
Ireland
Professor Alan Irvine
airvine.sec@olchc.ie
Outpatient clinic for Epithelial Adhesion Disorders

   
ITALY
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
U.O. di Dermatologia
ASST degli Spedali Civili di Brescia
Piazzale Spedali Civili 1
25123 Brescia
ITALY
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Venturini
Prof. Marina Colombi

Outpatient clinic for heritable connective tissue disorders with cutaneous involvement, Epithelial adhesion disorders, Keratinization Disorders

 

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche - Università di Milano
Via Pace 9
20122 Milano
Italy
Dr. Gianluca Tadini
gtadinicmce@unimi.it
Outpatient clinic for Genodermatoses or rare diseases

Chirurgia Plastica e Ricostruttiva
Università degli Studi di Foggia
Viale Pinto
71100 Foggia
Italy
Prof. Aurelio Portincasa
Prof. Domenico Parisi
d.parisi@unifg.it
Outpatient surgical clinic for Epithelial Adhesion Disorders

Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1
Bologna
40138 Italy
Prof. Annalisa Patrizi
Dr. Iria Neri 
iria.neri@aosp.bo.it 
Outpatient clinic for Genodermatoses or rare diseases 
(Autoimmune polyendocrinopathy-candiasis-ectodermal dystrophy syndrome, Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome, Focal dermal hypoplasia syndrome, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental dysplasia, Epidermolysis bullosa, Ichthyosis, Vascular anomalies and others)
 

Dipartimento di scienze dermatologiche
Via della Pergola, 58
Florence
50121 Italy
Prof. Paolo Fabbri
fabbri@unifi.it
Outpatient clinic for Genodermatoses or rare diseases

 
I Division of Dermatology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via dei Monti di Creta 104
00167 Rome
Italy
Dr. Biagio Didona

b.didona@idi.it
Center for Rare Diseases
Dermatology Unit
Responsible: Dr May El Hachem
Dipartimento Pediatrico Universitario Ospedaliero
Ospedale Pediatrico Bambino Gesù, IRCCS
Piazza S. Onofrio 4
00165 Roma
ITALY
Dr May El Hachem (chief Unit of Dermatology)
Dr Andrea Diociaiuti
Managing multidisciplinary approaches for genodermatoses and rare disorders (e.g.Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti, ectodermal dysplasia, Ehlers-Danlos, palmo-plantar keratoderma) and for Vascular anomalies. 
Immunofluorescence antigen mapping and electron microscopy for all disorders, if required
Pathology Unit
Responsible: Prof. Rita Alaggio Molecular testing for all the previous disorders in our laboratory of Genetic Medicine
Director: Dr Antonio Novelli
Department of Molecular and Translational Medicine, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Prof. Marina Venturini
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Molecular analysis of hereditary Cutis laxa
Molecular analysis of Pseudoxantoma elasticum
Molecular analysis of Ehlers-Danlos syndrome, classical
Molecular analysis of Ehlers-Danlos syndrome, vascular
Molecular analysis of Ehlers-Danlos syndrome kyphoscoliotic
Molecular analysis of Ehlers-Danlos syndrome, arthrochalasis
Molecular analysis of Ehlers-Danlos syndrome, dermatosparaxis
Molecular analysis of Ehlers-Danlos syndrome, rare variants
Molecular analysis of arterial tortuosity syndrome
Molecular analysis of Epidermolysis bullosa dystrophic, dominant and recessive

 

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche - Università di Milano
Via Pace 9
20122 Milano
Italy
Dr. Gianluca Tadini
gtadinicmce@unimi.it
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Unit of Dermatology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna,
via Massarenti 1, Bologna 
40138 Italy
Laboratorio di Istopatologia
Dr. Cosimo Misciali 
cosimo.misciali@unibo.it 
Histology/ Immunohistochemistry of Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome),Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED),Cleft lip/palate-ectodermal dysplasia syndrome, Clouston syndrome, Dyskeratosis congenita, Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome), Focal dermal hypoplasia syndrome, Hypohidrotic ectodermal displasia, Incontinentia pigmenti, Orofaciodigital syndrome type I, Rapp-Hodgkin syndrome, Rothmund-Thomson syndrome, Trichodental syndrome
 

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
Rome
Italy
00167
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular analysis of Epidermolysis bullosa dystrophic, dominant
Molecular analysis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, Herlitz
Molecular diagnosis of Epidermolysis bullosa junctional, with pyloric atresia
Molecular diagnosis of Kindler syndrome

Department of Molecular and Translational Medicine, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Prof. Marina Colombi
Prof. Nicoletta Zoppi
Dr. Marco Ritelli
Dr. Nicola Chiarelli
Research titles: Genomic, Transcriptomic and Proteomic studies on hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders
Study of the pathogenetic mechanisms involved in classical, vascular and hypermobile Ehlers-Danlos syndromes
Genodermatosis: Epidermolysis bullosa dystrophica
 
 

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
Rome
Italy
00167
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it
Research title: Molecular mechanisms underlying epithelial-mesenchimal adhesion disorders
Research title: Development of novel diagnostic protocols for genodermatoses

SPAIN
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
   

Regenerative Medicine Unit
Unidad Mixta CIEMAT and
Universidad Carlos III de Madrid UC3M_CIBER on Rare Diseases
Complutense 22, Complutense University Campus
Madrid
Spain
28040
Prof. Dr. Marcela Del Rio Nechaevsky
marcela.delrio@ciemat.es and mrnechae@ing.uc3m.es
Research activities on: Gene Therapy - Tissue Engineering

SWEDEN
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of Dermatology
University Hospital  
entrance 30 level 4
751 85 Uppsala
Sweden
Marie Virtanen, M.D,, PhD
marie.virtanen@akademiska.se
Outpatient clinic for Genodermatoses or rare diseases
   
SWITZERLAND
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER

Service de Dermatologie et Vénéréologie
CHUV / FBM - UNIL
Hôpital de Beaumont
Lausanne
Suisse
1011
Prof. Daniel Hohl
Sohpie Mercier
Sophie.Mercier@chuv.ch
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Laboratoire de biologie cutanée
Service de Dermatologie - CHUV/FBM
Hôpital de Beaumont, BT - 437
Lausanne
Switzerland
1011
Prof. Daniel Hohl
Sophie Mercier
Sophie.Mercier@chuv.ch
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

 
THE NETHERLANDS
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
University Medical Center Groningen, Rijksuniversiteit Groningen
Postbus 30.001
9700 RB Groningen, The Netherlands
Department of Dermatology
Dr. M.C. Bolling, MD PhD, dermatologist
Department of Clinical Genetics
Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist
Outpatient clinic for Genodermatoses or rare diseases
 
Department of Genetics, section of genome diagnostics
University Medical Center Groningen, Rijksuniversiteit Groningen
Potbus 30.001
9700 RB Groningen, The Netherlands
Dr. H.H. Lemmink
h.h.lemmink@umcg.nl or genoomdiagnostiek@umcg.nl
 
University Medical Center Groningen, Rijksuniversiteit Groningen
Postbus 30.001
9700 RB Groningen, The Netherlands
Department of Dermatology
Dr. M.C. Bolling, MD PhD, dermatologist
Department of Clinical Genetics
Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist
Outpatient clinic for Genodermatoses or rare diseases

 

UNITED KINGDOM
CLINICAL CENTER DIAGNOSTIC CENTER RESEARCH CENTER
Department of Dermatology
Royal London Hospital
London E1 1BB
UK
Professor Edel O’Toole
Outpatient clinic for Genodermatoses or rare diseases
 
Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital Westminster Bridge Road
London SE1 7EH
UK
Dr. Jemima Mellerio 
jemima.mellerio@kcl.ac.uk 
Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology
Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital Westminster Bridge Road
London SE1 7EH
UK
Dr. Jemima Mellerio 
jemima.mellerio@kcl.ac.uk 
Diagnostic: via Robin Eady National Diagnostic EB Laboratory
 
East of Scotland Regional Genetics Service
Ninewells Hospital
DD1 9SY Dundee
UK
David Baty, PhD (Head)
dbaty@nhs.net
Keiko Asakura
Genetic testing for skin conditions (Naegeli syndrome)
 

Genetic Skin Disease Group Division of Genetics and Molecular Medicine
St John's Institute of Dermatology
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
UK
Trish Dopping-Hepenstal
trish.dopping-hepenstal@gsts.com
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular analysis of Epidermolysis bullosa dystrophic, dominant
Molecular analysis of Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Molecular analysis of Epidermolysis bullosa dystrophic, pruriginosa/pretibialis
Molecular analysis of Epidermolysis bullosa junctional, Herlitz
Molecular analysis of Epidermolysis bullosa junctional, non-Herlitz
Molecular analysis of Epidermolysis bullosa junctional, with pyloric atresia
Molecular analysis of Kindler syndrome

Centre for Cell Biology and Cutaneous Research
Blizard Institute
4 Newark St
London E1 2AT
Professor Edel O’Toole
 
Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital Westminster Bridge Road
London SE1 7EH
UK
Dr. Jemima Mellerio 
jemima.mellerio@kcl.ac.uk 
Research activities on: Clinical trials of various interventions (cell and gene therapy, commercial clinical trials of topical therapies).  PEBLES study of the natural history of recessive dystrophic EB
 

Genetic Skin Disease Group
St John's Institute of Dermatology - St Thomas' Hospital
Division of Genetics and Molecular Medicine
Westminster Bridge Road
London SE1 7EH
England
Prof. John McGrath
john.mcgrath@kcl.ac.uk
Research activities on: Epidermolysis bullosa dystrophic, dominant
Research activities on: Epidermolysis bullosa dystrophic, Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, non-Hallopeau-Siemens
Research activities on: Epidermolysis bullosa dystrophic, pretibialis
Research activities on: Epidermolysis bullosa dystrophic, pruriginosa
Research activities on: Epidermolysis bullosa junctional, Herlitz
Research activities on: Epidermolysis bullosa junctional, non-Herlitz
Research activities on: Epidermolysis bullosa junctional, with pyloric atresia
Research activities on: Kindler syndrome