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DESCRIPTION DU PROGRAMME
DESCRIPTION DU PROGRAMME
Des professionnels de la santé, des chercheurs et des scientifiques du monde entier se réunissent pour partager leurs expériences, obtenir des conseils pratiques et discuter des technologies de pointe et de la recherche innovante dans le domaine de l'EB.

Programme journalier:
TÉLÉCHARGER LE PROGRAMME
Workshop: Family Forum with the Health Professionals
Workshop: Nutrition
Workshop: Update on Outcome Measures
Workshop: Update on Registries
JOUR 1
16 Septembre
(Jeudi)
Cérémonie d'ouverture
Recherche fondamentale et préclinique
Histoire naturelle
Ateliers de gestion DEBRA (groupes DEBRA uniquement)
Professor
Jemima Mellerio
Professor
Cristina Has
Associate Prof.
Anna Bruckner
Dr.
Anna Martinez
Chaises:
Professor Jemima Mellerio
Intervenants de la section :
Chaises:
Professor Johann Bauer, Professor Peter Marinkovich
Intervenants de la section :
Dr
Andrew South
Dr
Isin Sinem Bagci
Dr
Peter C. van den Akker
Dr
Joanna Jackow
Dr
Alexander Nyström
Professor
Dennis R. Roop
Professor
Jean Yuh Tang
Présentations courtes
Professor
Alain Hovnanian
Professor
Mbarka Bchetnia
Kate Carroll
Professor
Hannelore Breitenbach-Koller
Chaises:
Professor Alain Hovnanian
Intervenants de la section :
Dr
Laura Trefzer
Araksya Izmiryan
JOUR 2
17 Septembre (Vendredi)
Essais cliniques 1
EB Expérience internationale et soutien international
Essais cliniques 2
Ateliers pour participants médicaux: forums professionnels
Dr.
Su Mar Lwin
Professor
Peter Marinkovich
Professor
Eli Sprecher
Chaises:
Professor Leena Bruckner-Tuderman, Professor Helmut Hintner
Intervenants de la section :
Professor
Dedee Murrell
Chaises:
Professor Eli Sprecher, Dr. Su Mar Lwin
Intervenants de la section :
Professor
Amy Paller
Professor
Michele De Luca
Dr
Dimitra Kiritsi
Satellite symposium Drug Development – Where do our Medicines Come From?
Dr
Maya El Hachem
BSc Martin Geroldinger
Presented by:
Amryt Pharma
MSc Georg Zimmermann
Dr
Florian Lagler
New clinical data – update on clinical practice guidelines
Section speaker:
Professor
Martin Laimer
How to design a clinical trial?
Section speakers:
Angélique Sauvestre
Professor
Jean Y. Tang
Suma Krishnan
JOUR 3
18 Septembre (Samedi)
Soins et gestion cliniques
Cibler les défis thérapeutiques
Ateliers de gestion DEBRA (groupes DEBRA uniquement)
Chaises:
Professor Dedee Murrell, Professor Martin Laimer
Chaises:
Associate Prof. Anna Bruckner, Dr. Anja Diem
Ph.D.
Gregory Zinoviev
Dr.
Alexander Pleshkov
Intervenants de la section :
Dr
Tariq Khan
Intervenants de la section :
MD.
Kenneth Goldschneider
Prof. Dr. Dr.
Martin Steinhoff
Dr.
Antonia Reimer
Professor
Nikolay Murashkin
Professor
Jemima Mellerio
Professor
Adrian Heagerty
Dr
Christina Guttmann-Gruber
JOUR 4
19 Septembre (Dimanche)
Soins multidisciplinaires
Cérémonie de clôture
Dr.
Anja Diem
Chaises:
Dr. Anna Martinez, Prof. Nikolay Murashkin
Intervenants de la section :
Dr.
Alexander Pleshkov
Margarita Geht
Dr.
Anna Martinez
Dr
Jan-Sher Bhatti
Dr
Christine Bodemer
Grand round, panel debate
Chairs:
Professor Jouni Uitto, Professor Jo-David Fine
Professor
Jouni Uitto
Professor
Jo-David Fine
Comité scientifique
  • Professor
    Johann Bauer
    Chef de SPC
    Université de médecine Paracelse,
    L'Autriche
  • Professor
    Martin Laimer
    Secrétaire de la SPC
    Université de médecine Paracelse,
    L'Autriche
  • Professor
    Cristina Has
    Université de Fribourg,
    Allemagne
  • Professor
    Helmut Hintner
    EB House Autriche,
    L'Autriche
  • Professor
    Peter Marinkovich
    Université de Stanford,
    États Unis
  • Professor
    Jemima Mellerio
    St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust,
    Royaume-Uni
  • Professor
    Anna Bruckner
    Université du Colorado,
    États Unis
  • MD, PhD
    Julia Kotalevskaya
    Institut régional de recherche et clinique de Moscou (MONIKI),
    Russie
  • Professor
    Nikolay Murashkin
    Centre national de recherche médicale pour la santé des enfants,
    Russie
CHAISES
  • Professor Johann Bauer
    Le Dr Bauer est dermatologue certifié, professeur et président du département de dermatologie de l'hôpital universitaire de Salzbourg depuis 2014. Il est ici directeur de l'EB House Austria, le centre national pour les patients atteints d'épidermolyse bulleuse en Autriche. Il a une longue expérience dans le diagnostic moléculaire, la gestion et la recherche sur la biologie de la peau / les maladies vésiculeuses, le vieillissement cutané et la neurobiologie de la peau. Son principal intérêt est de développer de nouvelles thérapies pour les patients souffrant d'épidermolyse bulleuse, une maladie cutanée vésiculeuse.
  • Professor Peter Marinkovich
    Professeur agrégé de dermatologie et l'un des membres fondateurs du programme de biologie épithéliale de la faculté de médecine de l'Université de Stanford. Ses travaux portent sur la biologie de la membrane basale et sur le développement translationnel de thérapies moléculaires pour l'épidermolyse bulleuse. Il était un ancien médecin traitant du National EB Registry de 1995 à 2000, et est le directeur de la clinique des maladies bulleuses à l'Université de Stanford. Ses équipes de science fondamentale et de recherche clinique sont actuellement engagées dans plusieurs essais en cours de thérapie génique pour l'épidermolyse bulleuse.
  • Professor Jemima Mellerio
    L'expertise clinique du Pr Mellerio est une maladie génétique de la peau, notamment l'EB, d'autres maladies génétiques de la peau et la dermatologie pédiatrique. Ses activités de recherche se concentrent sur de nouvelles thérapies translationnelles pour les génodermatoses telles que les approches de thérapie cellulaire et génique pour l'EB et d'autres maladies génétiques de la peau.

    St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust, Royaume-Uni
  • Professor Leena Bruckner-Tuderman
    Professeur et Chaire de Dermatologie au Centre Médical – Université de Fribourg. Ses recherches portent sur la biologie des membranes basales et de la matrice extracellulaire, sur les causes moléculaires et les mécanismes pathologiques des troubles génétiques et acquis de la fragilité cutanée, ainsi que sur le développement de nouvelles thérapies biologiquement valides. Son expérience comprend la recherche et le travail clinique en Finlande, aux États-Unis, en Suisse et en Allemagne ainsi qu'un engagement dans des organisations nationales et internationales. Elle a été présidente de la Société européenne de recherche dermatologique, de la Société allemande de dermatologie et vice-présidente de la Fondation allemande pour la recherche.
  • Professor Helmut Hintner
    Après sa formation médicale à Innsbruck (Autriche) et une résidence d'un an et demi aux National Institutes of Health de Bethesda (USA), Helmut Hintner a dirigé le département de dermatologie de l'Université de médecine Paracelsus à Salzbourg de 1992 jusqu'à sa retraite en 2014. Il a participé à la création de l'EB House Austria à Salzbourg et co-fondateur d'EB-CLINET et de 2011 à 2014, il a été membre autrichien du Comité d'experts de l'UE sur les maladies rares (EUCERD), qui était responsable pour le développement de centres d'expertise et de réseaux européens de référence. Helmut Hintner est également co-auteur du livre « Life with Epidermolysis Bullosa (EB) : Etiology, Diagnosis, Multidisciplinaire Care and Therapy (disponible en anglais, espagnol, chinois et russe).
  • Professor Eli Sprecher
    Les recherches du professeur Sprecher portent sur les bases génétiques des maladies de la peau. Son groupe vise à comprendre la génétique moléculaire des traits simples et complexes, à déchiffrer leur pathogenèse, puis à tenter de traduire ces nouvelles connaissances en outils thérapeutiques innovants.
  • Dr Su Mar Lwin
    Les recherches du Dr Lwin se concentrent sur la thérapeutique translationnelle; elle dirige actuellement un projet financé par DEBRA pour développer une thérapie génique par pulvérisation pour le RDEB. Elle étend davantage ses intérêts à la découverte des mécanismes complexes sous-jacents à l'EB et aux applications cliniques plus larges des thérapies avancées.
  • Professor Dedee Murrell
    Les recherches actuelles du professeur Murrell se concentrent sur le développement et la validation de mesures de résultats cliniques pour l'EB et les cloques auto-immunes, qui ont permis la poursuite des essais cliniques dans ces maladies orphelines.
  • Professor Martin Laimer
    Professeur de dermatologie et chef adjoint du département de dermatologie et d'allergologie, Hôpital universitaire de l'Université de médecine Paracelsus de Salzbourg. Il dirige également le Centre d'études cliniques de l'EB House Austria, un centre national d'expertise désigné pour l'épidermolyse bulleuse au sein de l'ERN (European Reference Network) Skin. Le Dr Laimer travaille à la fois cliniquement et scientifiquement dans le domaine des maladies rares, avec un intérêt particulier pour l'épidermolyse bulleuse, depuis près de 20 ans. En 2014, il a été nommé co-président du conseil d'administration du Centre de Salzbourg pour les maladies rares et dirige l'Académie autrichienne d'éducation dermatologique depuis 2018. En 2020, il a été élu secrétaire général de la Société autrichienne de dermatologie et de vénéréologie.
  • Professor Anna Bruckner
    University of Colorado, United States.
  • Dr Anja Diem
    Le Dr Diem est étroitement impliqué dans la recherche clinique, coordonne la collaboration multidisciplinaire aux niveaux local, national et international, et est auteur ou co-auteur de nombreuses publications scientifiques et pédagogiques, dont un « manuel EB" multilingue axé sur le patient.
  • Dr Anna Martinez
    Le Dr Martinez est un contributeur majeur à la recherche dans le domaine de la dermatologie pédiatrique, en particulier l'EB. Elle est chercheuse en chef et chercheuse principale sur un programme continu d'essais cliniques sur de nouvelles thérapies en dermatologie pédiatrique.
  • Professor Nikolay Murashkin
    National Medical Research Center for Children's Health, Russia.
INTERVENANTS
Dr Andrew South
Associate Professor in the Department of Dermatology and Cutaneous Biology at Thomas Jefferson University, Philadelphia. He has authored over 100 peer-reviewed articles on the subjects of genetic skin disease and squamous cell carcinoma.
Professor
Dennis R. Roop
Dennis R. Roop, PhD, is the founding Director of the Charles C. Gates Center for Regenerative Medicine. He is Professor of Dermatology and holds the Charles C. Gates Chair of Regenerative Medicine. He was also founding Director of the Gates Biomanufacturing Facility, a state-of-the-art current Good Manufacturing Practices (cGMP) facility, which opened in April, 2015 and manufactures US Food and Drug Administration (FDA) approved investigational regenerative medicine products for early phase clinical trials. He has authored more than 300 peer-reviewed articles and his research program has been continuously funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases for over 30 years. He and his collaborators are developing an iPS cell-based therapy for RDEB.
Professor Jouni Uitto
Professor Uitto is Professor and Chair of the Department of Dermatology and Cutaneous Biology and Director of the Jefferson Institute of Molecular Medicine at Thomas Jefferson University in Philadelphia. He has several decades of interest in epidermolysis bullosa, and his research group was the first to clone several EB-associated candidate genes and to identify mutations in different subtypes of EB. His group also developed animal models for different forms of EB; these models have served as a platform for therapy development currently in the late preclinical and early clinical pipeline. Professor Uitto is the Chair of the Medical and Scientific Advisory Panel of DEBRA of America.
Dr Peter van den Akker
Clinical Geneticist and Research Fellow at the University Medical Center Groningen, the Netherlands. In addition, he is a DEBRA-UK sponsored Clinical Research Fellow at the University of Dundee, Scotland. In his clinical work, he focuses on Genodermatoses in general and EB in particular. His research centers around the genetics of EB with a special interest in RNA-based treatment approaches.
Professor Jemima Mellerio
Professor Mellerio’s clinical expertise is a genetic skin disease, notably EB, other genetic skin diseases and paediatric dermatology. Her research activities focus on novel translational therapies for genodermatoses such as cellular and gene therapy approaches for EB and other genetic skin diseases.

St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust, United Kingdom
Professor Cristina Has
Professor at the Department of Dermatology of the University of Freiburg in Germany with a focus of interest on EB and other genetic skin disorders. Her clinical activity includes general and pediatric dermatology, with focus and genodermatoses. With her group, she has identified new genes and characterized large cohorts of patients with genodermatoses, established genotype-phenotype correlations and explored the underlying disease mechanisms.
Dr Anna Bruckner
Professor of Dermatology and Pediatrics at the University of Colorado School of Medicine and Section Head of Pediatric Dermatology at Children’s Hospital Colorado. Dr Bruckner specialises in pediatric dermatology, observational clinical research and clinical trials. Her areas of expertise include EB and other genetic skin disorders, vascular birthmarks, atopic dermatitis (eczema), and complex patients. She co-directs the Epidermolysis Bullosa Clinic at Children’s Hospital Colorado. She is a founding member of the EB Clinical Research Consortium, a network of North American EB care centres collaborating in clinical research to improve care and outcomes for patients with EB.
Dr Anna Martinez
Dr Martinez is a major contributor to research in the field of paediatric dermatology, in particular EB. She is Chief Investigator and Principal Investigator on a rolling programme of clinical trials into novel therapies in paediatric dermatology.
Dr Su Mar Lwin
Dr Lwin’s research focuses on translational therapeutics; she is currently leading a DEBRA-funded project to develop spray-on gene therapy for RDEB. She further expands her interests in unraveling complex mechanisms underlying EB and wider clinical applications of advanced therapeutics.
Professor Peter Marinkovich
Professor Marinkovich’s basic science and clinical research teams are currently engaged in several ongoing gene therapy trials for epidermolysis bullosa.
Profesor Eli Sprecher
Profesor Sprecher’s research focuses on the genetic basis of skin diseases. His group aims to understand the molecular genetics of both simple and complex traits, decipher their pathogenesis, and then attempt to translate this new knowledge into innovative therapeutic tools.
Professor Dedee Murrell
Professor Murrell’s current research focuses on developing and validating clinical outcome measures for EB and the Autoimmune blistering diseases, which have enabled clinical trials to proceed in these orphan diseases.
Professor Amy Paller
Amy Paller, MS, MD is the Walter J. Hamlin Professor and Chair of Dermatology, Professor of Pediatrics, and Principal Investigator of the NIH-funded Northwestern University Feinberg School of Medicine in Chicago. She directs the Pediatric Dermatology Clinical Trials Unit at Northwestern/ Lurie Children’s Hospital, which has participated in more than a dozen trials and investigations related to epidermolysis bullosa and is a member of the Epidermolysis Bullosa Clinical Research Consortium. Her laboratory focuses on skin innervation in inflammatory diseases, wound healing, and topically delivered gene regulation through nanotherapy.
Dr Gregory Zinoviev
Clinical expertise is a diagnosis and combined treatment of soft tissue, bone sarcomas (resections, reconstructive and plastic surgery, endoprosthetics) and inorganic retroperitoneal tumours, as well as diagnosis and surgical treatment of malignant skin tumours. He is actively working with adult EB patients who have been diagnosed with cancer. He is a head of the Surgical Department of bone, soft tissue and skin tumours, oncologist at NMRC of Oncology named after N.N. Petrov of MoH of Russia, St. Petersburg and DEBRA Russia expert.
Professor Martin Steinhoff
Chairman, Dept. of Dermatology, Director of the Dermatology Institute and Director of the Translational Research Institute at Hamad Medical Corporation, Qatar. He is Professor at Weill-Cornell Medicine-New York, USA, Weill-Cornell Medicine-Qatar, and Qatar-University, and holds board certificates in Dermatology, Venereology, Phlebology and Allergy. His fields of interest are Atopic Dermatitis, Pruritus, Psoriasis, Rosacea, and Wound care. His research has been funded with >60 Mio Euro, published >230 peer-reviewed articles (IF>1,200; H-index 78), holds numerous patents, and was PI on various clinical trials. Prof Steinhoff received prestigious international research awards, was on board-of-directors of European Society of Dermatology Research, and is honorary member of several Societies for Dermatology.
Dr Alexander Pleshkov
Dr Pleshkov has been contributing to the work with EB patients for many years, performing finger splitting surgery. He is a leading surgeon in the Department of Burns and Plastic Surgery at NMRC of the Nikiforov’s NRCERM, and a DEBRA Russia expert. He is a member of the DEBRA International team that develops guidelines for hand surgery.
Dr Margarita Geht
Dermatologist, paediatrist, leading dermatologist at DEBRA Russia. Dr. Gecht's clinical expertise lies in the children's intensive care and care in the first month of life, genetic diseases (EB, ichthyosis, keratoderma and other genodermatoses) and pediatric dermatology. Research work aims to develop a specialized scale for assessing pain and other subjective sensations in patients with EB. Management of pregnancy, postpartum period in women with different types of EB predominantly with RDEB (Dystrophic bullous epidermolysis, autosomal recessive type).
Dr Antonia Reimer
German board-certified Dermatologist, Paediatrician, and Allergist. Since 2016, she has been working at the EB-Center and the Department of Dermatology – Medical Center, University of Freiburg, Germany. As a clinician-scientist, her research focus lies on the natural history of EB with special interests in growth, nutrition, and the microbiome. Her research work is funded by debra international and the German Foundation for Paediatric Dermatology. She was selected to join the ESDR Future Leaders Academy in 2019 and represented Germany in the 2021 Euroderm Excellence Academy.
Dr Kenneth Goldschneider
Director of the Pain Management Center at Cincinnati Children’s  Hospital in Cincinnati Ohio, USA. He is board-certified in Anesthesiology, Pediatric Anesthesia and Pain Management and has lectured and published extensively on pain in children and young adults. He is a member of the EB Center in Cincinnati and has cared for patients with EB for many years. He led the development of the pain and itch best care practice guidelines in 2012 and continues to do research on the best care for patients with EB.
Dr Tariq Khan
Consultant Podiatrist and Director of the Marigold Clinic, Royal London Hospital for Integrated Medicine, University College London Hospitals. Dr Khan is also the Lead for Podiatry for Debra UK, and co-authored the Clinical practice guideline on EB Podiatry (2019). His current areas of research include warts and verruca pedis, neurovascular corns, fibrous corns, keratoderma, heel pain, plantar fasciitis, hallux valgus (bunion), epidermolysis bullosa, and wound healing.
Dr Isin Sinem Bagci
Finished medical training in Turkey, completed Dermatology training in Turkey and Germany. Worked on autoimmune blistering diseases and noninvasive imaging techniques mainly focusing on innovative diagnostic methods for blistering diseases. Currently a Postdoc fellow working in Marinkovich lab at Stanford University, Department of Dermatology with a focus on gene replacement treatments in epidermolysis bullosa and characterization of subsequent autoimmune reactions.
Dr Anja Diem
Dr Diem is closely involved in clinical research, coordinates multidisciplinary collaboration at local, national and international levels, and is author or co-author of numerous scientific and educational publications, including a patient-oriented, multilingual “EB handbook”.
Dr May El Hachem
Head of the Dermatology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy. Also she is Coordinator of the Reference Centers for Rare Skin Diseases and for Rare Vascular Anomalies at the hospital. She is President of the Italian Society for the Study of Vascular Anomalies and President of the Scientific Committee of the Rare Skin Diseases Network (Fondation René Touraine). Her research interests are natural disease history, genotype-phenotype correlation and novel therapeutic approaches in rare genetic skin diseases. She has more than 135 mostly on genodermatoses, in particular epidermolysis bullosa.
Dr Alexander Nyström
A group leader at the Department of Dermatology, Medical Faculty, Medical Center – University of Freiburg, Germany. He received his PhD from Lund University, Sweden and his postdoctoral training from Thomas Jefferson University, Philadelphia, PA, US. His translational research focuses on the dermal microenvironment with a special interest in collagen VII and therapy development for dystrophic epidermolysis bullosa. In addition, he has served as an advisor to multiple companies and foundations in the rare disease space to promote bed-to-bedside translation further.
Dr Christina Guttmann-Gruber
A group leader at the EB House Austria, an EU Centre of Expertise for epidermolysis bullosa and special clinic for EB patients at the University Hospital Salzburg. Her research focuses on understanding the processes of wound chronification and tumour development in EB, particularly the microbiome's contribution in these contexts. She further emphasises developing new strategies to improve wound healing and translating research from bench to bedside.
Professor Christine Bodemer
She is the Head of the Department of Dermatology at Necker Enfants-Malades Hospital in Paris and a professor of Dermatology at the Paris Descartes-Sorbonne University. She specialises in Pediatric Dermatology. One of her main areas of interest is rare skin diseases in children. She also coordinates a national expert centre (MAGEC), the French national network (FIMARAD) and the European network (ERN-SKIN) on rare diseases of the skin. Professor Bodemer has developed research and clinical networks in Dermatology and research programmes supported by national and international grants, leading to translational innovative therapies and patents. She is a member of many scientific societies and associate editor of various newspapers. She received in 2020 ILDS (the International League of Dermatology Societies) Award: 2020 ILDS Certificate of Appreciation for International Leadership
Dr Dimitra Kiritsi
Dr Dimitra Kiritsi‘s clinical and research focus has been on skin fragility disorders, genetic or acquired. Besides her work with patients, as a consultant dermatologist, she is leading the Clinical Trial Center Fragile Skin of the University of Freiburg. Her research interests encompass the identification of pathogenetic mechanisms for the different EB subtypes, especially the driving mechanisms of impaired wound healing, dysregulation of the immune system and development of skin tumours, as well as the exploration of new therapeutic approaches.
Dr Marieke Bolling
She is a Dermatologist at the Department of Dermatology, University Medical Center Groningen - the Center for Blistering Diseases in the Netherlands and the national expertise centre for Epidermolysis Bullosa (EB). She is a board member of the national society for Genodermatoses and ERN-Skin-Epidermolysis Bullosa. Her expertise includes clinical care and research on a wide range of topics involving EB.
BSc Martin Geroldinger
He is a Research Associate in Biostatistics and Data Science at the Paracelsus Medical University of Salzburg, Department of Research and Innovation Management, Team Biostatistics and Big Medical Data, IDA Lab Salzburg, with a research interest in rare diseases and statistical challenges with small sample sizes, as well as implementations and coding in R.

MSc Georg Zimmermann
He has been working as a research associate for statistics at the University Clinic of Neurology, Christian Doppler Medical Centre, SCI-TReCS, Paracelsus Medical University, Salzburg. Recently, he has been appointed team leader of the Team Biostatistics and Big Medical Data, Intelligent Data Analytics Lab Salzburg. His main statistical and methodological interests are systematic reviews, statistical methods for small samples, and sample size calculation. Moreover, Georg Zimmermann focuses on interdisciplinary research, with publications covering theoretical statistical work and study in neurology, paediatrics, and internal medicine.
Dr Jan-Sher Bhatti
He is a Clinical Psychologist with experience in providing evidence-based psychological approaches for children, young people and their families, who are living with paediatric conditions. He has worked alongside the Epidermolysis Bullosa (EB) Team at Great Ormond Street Hospital in London, and recognises how EB can affect the emotional wellbeing of families living with the condition, as well as the professionals who provide care. Jan-Sher's experience supporting the EB team has allowed him to consider the application of evidence based psychological models and approaches to assist with the varying demands of EB and to promote favourable development.
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