AUSTRIA
Dermatology
Innsbruck Medical University
Anichstr.
35
Innsbruck
Austria
A6020
Prof. Matthias
Schmuth
Dr. Robert Gruber
r.gruber@uibk.ac.at
Project title: Characterization and mapping of
genes adjacent to the STS locus
FRANCE
Department of Human Genetics and animal models
Purpan
Hospital
Pavillon
Lefebvre
Toulouse
France
31024
Prof. Alain
Hovnanian
alain.hovnanian@toulouse.inserm.fr
Research activities on: Pathophysiology and
Treatment
Dermatologic Diseases
Centre National de Génotypage
2
rue Gaston Crémieux
91057 Evry
France
Prof. Mark
Lathrop
Dr. Judith Fischer
fischer@cng.fr
Research activities on: Chanarin-Dorfman
syndrome
Research activities on: Harlequin type
ichthyosis congenita
Research activities on: Lamellar ichthyosis
Research activities on: Non-bullous congenital ichthyosiform
erythroderma
Research activities on: X-linked
recessive ichthyosis
Laboratoire de Spectrométrie de Masse Biochimie
Faculte
de Medecine Saint Antoine
505, 27 rue Chaligny
75012
Paris
France
Dr. Claude Wolf
wolf@ccr.jussieu.fr
Research activities on: Refsum
disease
Research activities on: X-linked recessive
ichthyosis
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
Dr. Smail Hadj Rabia
Hadj-Rabia@necker.fr
Project title: Clinical, immunohistochemical
analysis and research of a genotype/phenotype correlation
(Netherton syndrome)
GERMANY
Department of Dermatology
University
Hospital
Von-Esmarch-Str.
58
Muenster
Germany
48149
Dr. Heiko Traupe
Dr.
Vinzenz Oji
Vinzenz.oji@ukmuenster.de
Project title: Development of enzyme replacement
therapy for TGase1 deficient lamellar ichthyosis
Project
title: Biochemical characterization of TGM1 mutations in
bathing suit ichthyosis
Project title: Immunohistochemical assessment of the skin (Netherton
syndrome)
Department of Dermatology
University of
Cologne
Kerpener Strasse 62
50931
Köln
Germany
Meral Arin
meral.arin@uk-koeln.de
Project title: Regulation of keratin 9
expression (for Bullous congenital ichthyosiform
erythroderma)
Division of Dermatogenetics, Cologne Center for
Genomics
University of Cologne
Zülpicher Str.
47
50674 Köln
Germany
Dr. Hennies
hhennies@uni-koeln.de
Project title: Connexin-associated hearing
loss
Project title: Identification and
characterization of genes for autosomal recessive congenital
ichthyosis
Project title: Diagnosis,
characterization, and prevention of autosomal recessive
congenital ichthyosis
Project title: Molecular and
functional analysis of epidermal lipoxygenases
Project
title: Role of epidermal lipoxygenases for the barrier
function of the skin
Project title: Clinical and
molecular characterization of loricrin
keratoderma
Project title: Identification and
characterization of genes for autosomal recessive congenital
ichthyosis
Project title: Diagnosis,
characterization, and prevention of autosomal recessive
congenital ichthyosis
Project title: Molecular and
functional analysis of epidermal lipoxygenases
Project
title: Role of epidermal lipoxygenases for the barrier
function of the skin - congenital ichthyosis as a model
disease
Zentrum fuer Humangenetik
Philipps-Universitaet
Marburg
Bahnhofstrasse
7
Marburg
Germany
35037
Prof. Karl-Heinz Grzeschik
grzeschi@staff.uni-marburg.de
Project title: Molecular and Functional Analysis
of Ichthyosis Caused by Defective Sterol Biosynthesis (CHILD
syndrome)
HUNGARY
Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
Budapest
Hungary
H-1085
Prof. Sarolta Kárpáti
Dr. Antal Blazsek
blazsek@bor.sote.hu
Project title: Genotype-phenotype correlation
analysis in Hungarian cases of genodermatoses (Darier disease,
Hailey-Hailey disease, Lamellar ichthyosis/Non-bullous
congenital ichthyosiform erythroderma, and Netherton syndrome)
Project title: Improving methodics of mutation analysis
and prenatal diagnostics in genodermatoses (Darier disease,
Hailey-Hailey disease, Lamellar ichthyosis/Non-bullous
congenital ichthyosiform erythroderma, and Netherton syndrome)
ITALY
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
Project title: Netherton syndrome: functional
study of the detective gene SPINK5, and its encoded protein,
LEKTI
Project title: Development of novel diagnostic
protocols for genodermatoses (Netherton syndrome)
U.O.C. Laboratorio di Genetica Medica
Università degli
Studi di Roma "La Sapienza"
Azienda Ospedaliera San
Camillo-Forlanini
Circonvallazione Gianicolense 87
00152
Rome
Italy
Prof. Paola Grammatico
paola.grammatico@uniroma1.it
or pgrammatico@scamilloforlanini.rm.it
Research activities on: Darier
disease
Research activities on: Hailey-Hailey
disease
SPAIN
Regenerative Medicine Unit. Epithelial Biomedicine
Division
Ciemat
Complutense 22, Complutense University
Campus
Madrid
Spain
28040
Dr. Marcela Del Rio
Nechaevsky
Rubén Moreno
ruben.moreno@ciemat.es
Project title: Development of in vivo disease
model systems/ skin-humanized mouse model (pachyonychia
congenita type 1)
SWITZERLAND
Laboratoire de Biologie cutanée
Service de Dermatologie
- CHUV/FBM
Hôpital de Beaumont, BT -
437
Lausanne
Suisse
1011
Prof. Daniel Hohl
Dr.
Marcel Huber
marcel.huber@chuv.ch
Research activities on: Inducible organotypic
model of Lamellar Ichthyosis
Research activities on: Inducible organotypic model of Bullous Cogenital
Ichthyosiform Erythroderma
UNITED KINGDOM
Centre for Cutaneous Research
Institute of Cell and
Molecular Science, Queen Mary, University of London
4
Newark Street, Whitechapel
London
UK
E1 4AT
Prof.
David Kelsell
d.p.kelsell@qmul.ac.uk
Research activities on: Biology of
connexins
Research activities on: Biology of
ABCA12
Department of Dermatology, University of
Glasgow
University of Glasgow
Robertson
Building
Glasgow
UK
G12 8QQ
Prof. Colin Munro
colin.munro@clinmed.gla.ac.uk
Project title: Clinical and molecular studies of
mechanism of keratoderma
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