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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