DNA Repair Disorders - Specialized Centers :: Geneskin

DNA Repair Disorders - Specialized Centers

AUSTRIA
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Department of Dermatology, Venereology and Allergology Medical University of Innsbruck Anichstraße 35 6020 Innsbruck Austria Prof. Dr. Matthias Schmuth Priv.-Doz. Dr. Robert Gruber robert.gruber@tirol-kliniken.at Center of Expertise for Disorders of Cornification / Genodermatoses

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 Genetics (CMBG) 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	Centre of Molecular Biology and Genetics (CMBG) 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

DENMARK
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
		Laboratory of DNA Repair ands Aging, Dep. of Molecular Biology Aarhus University C.F.Møllers allé, build. 1130 Aarhus Denmark DK-8000 Prof. Tinna Stevnsner tvs@mbg.au.dk Project title: Characterization of Cockayne syndrome group B protein and its role in DNA repair and aging processes

FRANCE
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
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 fanny.morice-picard@chu-bordeaux.fr Outpatient clinic for Genodermatoses or rare diseases Outpatient clinic for Pediatric dermatology Reference centre for Genodermatoses, MAGEC centre, Dermatology department Necker Enfants Malades Hospital, Assistance Publique, Imagine Institut 149 rue de Sèvres Paris 75015 France Prof. Bodemer Christine Christine.Bodemer@aphp.fr Clinical department for Genodermatoses and rare skin diseases Clinical department for Pediatric dermatology	Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases CHU de Bordeaux Hôpital Pellegrin Enfants, Place Amélie Raba Léon 33076 Bordeaux cedex France Dr Fanny Morice-Picard fanny.morice-picard@chu-bordeaux.fr Reference centre for Genodermatoses, MAGEC centre, Dermatology department Necker Enfants Malades Hospital, Assistance Publique, Imagine Institut 149 rue de Sèvres Paris 75015 France Prof. Bodemer Christine Christine.Bodemer@aphp.fr Clinical department for Genodermatoses and rare skin diseases Clinical department for Pediatric dermatology	Reference centre for Genodermatoses, MAGEC centre, Dermatology department Necker Enfants Malades Hospital, Assistance Publique, Imagine Institut 149 rue de Sèvres Paris 75015 France Prof. Bodemer Christine Christine.Bodemer@aphp.fr Clinical department for Genodermatoses and rare skin diseases Clinical department for Pediatric dermatology Genetics Stability and Oncogenesis Institut Gustave Roussy PR2 114, rue Edouard Vaillant 94805 Villejuif France Prof. Alain Sarasin alain.sarasin@gustaveroussy.fr

GERMANY
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Clinic for Dermatology and Venereology University Medical Center Rostock Strempelstrasse 13 18057 Rostock Germany Dr. Lars Böckmann and Prof. Dr. Steffen Emmert steffen.emmert@med.uni-rostock.de lars.boeckmann@med.uni-rostock.de Tel: (49)-(0)381-494 9760 FAX: (49)-(0)381-494 9702 Website: http://dermatologie.med.uni-rostock.de/ ERN Skin Center (Outpatient clinic and diagnostic laboratory) for DNA-Repair disorders and ichthyoses 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 DNA-Repair 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 kathrin.giehl@med.uni-muenchen.de www.izsgh.klinikum.uni-muenchen.de Outpatient clinic for genodermatoses and rare skin diseases Outpatient clinic for Pediatric Dermatology	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 http://www.klinikum.uni-heidelberg.de/Pathologisches-Institut.112.0.html Histology/electron microscopy of epidermolysis bullosa, keratinization disorders, heritable connective tissue disorders (Ehlers-Danlos syndrome, Cutis laxa), DNA repair disorders (light microscopy of hair shafts) DIAGENOS MVZ Humangenetik Caprivistraße 30 49076 Osnabrueck Germany Dr. Martin Gencik martin@gencik.com info@diagenos.com +49 541 80019907 www.diagenos.com Center for Rare and Genetic Skin Diseases Department of Dermatology Ludwig-Maximilian University Munich Hauptstraße 7 80337 Munich Germany Prof. Dr. med. Kathrin Giehl kathrin.giehl@med.uni-muenchen.de www.izsgh.klinikum.uni-muenchen.de Outpatient clinic for genodermatoses and rare skin diseases Outpatient clinic for Pediatric Dermatology	Clinic for Dermatology and Venereology University Medical Center Rostock Strempelstrasse 13 18057 Rostock Germany Dr. Lars Böckmann and Prof. Dr. Steffen Emmert steffen.emmert@med.uni-rostock.de lars.boeckmann@med.uni-rostock.de Tel: (49)-(0)381-494 9760 FAX: (49)-(0)381-494 9702 Web site: http://dermatologie.med.uni-rostock.de/ ERN Skin Center (Outpatient clinic and diagnostic laboratory) for DNA-Repair disorders and ichthyoses Research activities on: DNA repair and UV-induced carcinogenesis epidermal differentiation Cold atmospheric plasma Center for Rare and Genetic Skin Diseases Department of Dermatology Ludwig-Maximilian University Munich Hauptstraße 7 80337 Munich Germany Prof. Dr. med. Kathrin Giehl kathrin.giehl@med.uni-muenchen.de www.izsgh.klinikum.uni-muenchen.de Outpatient clinic for genodermatoses and rare skin diseases Outpatient clinic for Pediatric Dermatology

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 Genodermatoses or rare diseases (Xeroderma pigmentosum) Outpatient clinic for Pediatric Dermatology (Xeroderma pigmentosum)	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 DNA-repair disorders Electron microscopy of DNA-repair disorders

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 DNA-Repair Disorders

ITALY
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
ARS RADIOLOGICA s.r.l. Piazza N. Sauro, 6 Ruffano (LECCE) 73049 ITALY Dr. Alessandro Castriota Scanderbeg scanderbeg@arsradiologica.it Radiologic diagnosis of genetic diseases 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 Dermatologia - IRCCS Policlinico di S.Orsola Dermatology, Department of Experimental, Diagnostic and Specialty Medicine University of Bologna Via Massarenti, 1 40138 Bologna, Italy 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) 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 Division of Rare Skin Diseases Unit of Dermatology I Piero Palagi Hospital Usl Toscana Centro University of Florence Viale Michelangiolo 41, 50125 Florence, Italy. Dr. Marzia Caproni marzia.caproni@unifi.it U.O.C. di Dermatologia e Venereologia Ospedale Maggiore Via Stuparich, 1 34125 Trieste Italy Prof. Giusto Trevisan Dr. Patrizia Vidimari trevisan@units.it Oncologic clinic for Xeroderma pigmentosum 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	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 Human Genetics and Genomics Section Institute of Molecular Genetics, National Research Council of Italy via Abbiategrasso, 207 - 27100 Pavia Italy Dr. Elena Botta botta@igm.cnr.it Dr. Tiziana Nardo nardo@igm.cnr.it Cell Biology of DNA-repair disorders Molecular analysis of DNA-repair disorders	Human Genetics and Genomics Section Institute of Molecular Genetics, National Research Council of Italy via Abbiategrasso, 207 27100 Pavia Italy Dr. Elena Botta botta@igm.cnr.it Dr. Donata Orioli orioli@igm.cnr.it Dr.Miria Stefanini stefanini@igm.cnr.it Cell Biology of DNA repair disorders Molecular analysis of DNA repair disorders Research activities on: Cockayne syndrome, Trichothiodystrophy, Xeroderma pigmentosum

SPAIN
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER

SWITZERLAND
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
Service de Dermatologie et Vénéréologie CHUV / FBM - UNIL Hôpital de Beaumont Lausanne Suisse 1011 Prof. Daniel Hohl daniel.hohl@chuv.ch Dr. Stephanie Christen-Zäch, PD et MER Stephanie.Christen@chuv.ch Sandy Juat Sandy.Juat@chuv.ch Outpatient clinic for Genodermatoses or rare diseases Outpatient clinic for Pediatric dermatology

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 m.c.bolling@umcg.nl Department of Clinical Genetics Dr. P.C. Van den Akker, MD PhD, Clinical Geneticist p.c.van.den.akker@umcg.nl Outpatient clinic for Genodermatoses or rare diseases ErasmusMC, Erasmus University Medical Center Rotterdam P.O. Box 2040, 3000 CA Rotterdam, The Netherlands Department of Clinical Genetics Dr. Y. van Ierland, MD, PhD, Clinical Geneticist Dr. C.H.A. Nuiten, MSc, Nurse Specialist Department of Paediatrics Dr. C.R. Lincke, MD, PhD; Dr. B.J. Sibbles, MD, Paediatrician Department of Neurology Dr. M.C.Y. de Wit, MD, PhD, Paediatric Neurologist Department of Dermatology Prof. S.G.M.A. Pasmans, Paediatric Dermatologist Department of Internal Medicine Dr. L.C.G. de Graaff, Internist-Endocrinologist Contact: DNArepair@erasmusmc.nl https://encore-expertisecentrum.nl/en/cases/dna-repair/ ENCORE Expertise Center for Neurodevelopmental Disorders - Outpatient clinic for DNA repair disorders	Erasmus MC, Erasmus University Medical Center Rotterdam P.O. Box 2040, 3000 CA Rotterdam, The Netherlands Department of Clinical Genetics Dr. Y. van Ierland, MD, PhD, Clinical Geneticist E-mail: DNArepair@erasmusmc.nl https://encore-expertisecentrum.nl/en/cases/dna-repair/ ENCORE Expertise Center for Neurodevelopmental Disorders - Outpatient clinic for DNA repair disorders Molecular and functional diagnostics of DNA repair disorders	Erasmus MC, Erasmus University Medical Center Rotterdam P.O. Box 2040, 3000 CA Rotterdam, The Netherlands Department of Molecular Genetics Prof. Jan H.J. Hoeijmakers Prof. Wim Vermeulen Dr. A.F. Theil a.theil@erasmusmc.nl https://encore-expertisecentrum.nl/en/cases/dna-repair/ Molecular and functional analysis of DNA-repair disorders Research activities: DNA Repair, Transcription, Cancer, Ageing

UNITED KINGDOM
CLINICAL CENTER	DIAGNOSTIC CENTER	RESEARCH CENTER
National Xeroderma Pigmentosum Service Floor 2, Block C, South Wing St. John’s Institute of Dermatology St Thomas' Hospital Westminster Bridge Road London SE1 7EH Dr Hiva Fassihi MA(Cantab.) MD FRCP hiva.fassihi@kcl.ac.uk Clinical Lead National XP Service and Consultant Dermatologist Guy’s and St Thomas’ Hospitals NHS Foundation Trust XP e-mail: gst-tr.xp@nhs.net XP tel: 020 7188 0847 XP Fax: 020 7188 1621 Sally Turner, clinical nurse specialist in XP (children) - Tel: 020 7188 6339 Tanya Henshaw, clinical nurse specialist in XP (adults) - Tel: 020 7188 6351 Multidisciplinary specialist clinic for xeroderma pigmentosum	Genome Damage and Stability Centre School of Life Sciences University of Sussex Falmer Brighton BN1 9RQ Prof. Alan R Lehmann a.r.lehmann@sussex.ac.uk Tel: 01273 678120 National Xeroderma Pigmentosum Service Floor 2, Block C, South Wing St. John’s Institute of Dermatology St Thomas' Hospital Westminster Bridge Road London SE1 7EH Dr Hiva Fassihi MA(Cantab.) MD FRCP hiva.fassihi@kcl.ac.uk Clinical Lead National XP Service and Consultant Dermatologist Guy’s and St Thomas’ Hospitals NHS Foundation Trust XP e-mail: gst-tr.xp@nhs.net XP tel: 020 7188 0847 XP Fax: 020 7188 1621 Sally Turner, clinical nurse specialist in XP (children) - Tel: 020 7188 6339 Tanya Henshaw, clinical nurse specialist in XP (adults) - Tel: 020 7188 6351 Multidisciplinary specialist clinic for xeroderma pigmentosum Molecular analysis of UV DNA-Repair Disorders	Genome Damage and Stability Centre School of Life Sciences University of Sussex Falmer Brighton BN1 9RQ Prof. Alan R Lehmann a.r.lehmann@sussex.ac.uk Tel: 01273 678120 Research activities: Cockayne syndrome, Trichothiodystrophy, Xeroderma pigmentosum