Italiano
Italiano
DESCRIZIONE DEL PROGRAMMA
DESCRIZIONE DEL PROGRAMMA
Professionisti sanitari, ricercatori, scienziati di tutto il mondo si riuniscono per condividere esperienze, ottenere consigli pratici e discutere di tecnologie all'avanguardia e ricerca innovativa nel campo dell'EB.

Programma giornaliero:
SCARICA IL PROGRAMMA
Workshop: Family Forum with the Health Professionals
Workshop: Nutrition
Workshop: Update on Outcome Measures
Workshop: Update on Registries
GIORNO 1
16 Settembre (Giovedì)
Cerimonia d'apertura
Ricerca di base e preclinica
Storia Naturale
Laboratori di gestione DEBRA
(solo gruppi DEBRA)
Professor
Jemima Mellerio
Professor
Cristina Has
Associate Prof.
Anna Bruckner
Dr.
Anna Martinez
Sedie:
Professor Jemima Mellerio
Relatori di sezione:
Sedie:
Professor Johann Bauer
Professor Peter Marinkovich
Relatori di sezione:
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
Brevi presentazioni
Professor
Alain Hovnanian
Professor
Mbarka Bchetnia
Kate Carroll
Professor
Hannelore Breitenbach-Koller
Sedie:
Professor Alain Hovnanian
Relatori di sezione:
Dr
Laura Trefzer
Araksya Izmiryan
GIORNO 2
17 Settembre (Venerdì)
Sessione delle linee guida (solo su invito)
Studi clinici 1
Esperienza EB International e supporto internazionale

Studi clinici 2
Workshop per partecipanti medici: forum professionali
Dr.
Su Mar Lwin
Professor
Peter Marinkovich
Professor
Eli Sprecher
Sedie:
Professor Leena Bruckner-Tuderman, Professor. Helmut Hintner
Relatori di sezione:
Professor
Dedee Murrell
Sedie:
Professor Eli Sprecher, Dr. Su Mar Lwin
Relatori di sezione:
Professor
Amy Paller
Professor
Michele De Luca
Dr
Dimitra Kiritsi
Satellite symposium Drug Development-Da dove vengono le nostre medicine?
Dr
Maya El Hachem
BSc Martin Geroldinger
Presentato da:
Amryt Pharma
MSc Georg Zimmermann
Dr
Florian Lagler
Nuovi dati clinici – aggiornamento sulle linee guida della pratica clinica
Relatori di sezione:
Professor
Martin Laimer
Come progettare una sperimentazione clinica?
Relatori di sezione:
Angélique Sauvestre
Professor
Jean Y. Tang
Suma Krishnan
GIORNO 3
18 Settembre (Sabato)
Cura e gestione clinica
Affrontare le sfide terapeutiche
Laboratori di gestione DEBRA
(solo gruppi DEBRA)
Sedie:
Professor Dedee Murrell, Professor Martin Laimer
Sedie:
Associate Prof. Anna Bruckner, Dr. Anja Diem
Ph.D.
Gregory Zinoviev
Dr.
Alexander Pleshkov
Relatori di sezione:
Pr
Tariq Khan
Relatori di sezione:
MD.
Kenneth Goldschneider
Prof. Dr. Dr.
Martin Steinhoff
Dr.
Antonia Reimer
Professor
Nikolay Murashkin
Professor
Jemima Mellerio
Professor
Adrian Heagerty
Dr
Christina Guttmann-Gruber
GIORNO 4
19 Settembre (Domenica)
Assistenza multidisciplinare
Cerimonia di chiusura
Dr.
Anja Diem
Sedie:
Dr. Anna Martinez, Professor Nikolay Murashkin
Relatori di sezione:
Dr.
Alexander Pleshkov
Dr
Margarita Geht
Dr.
Anna Martinez
Dr
Jan-Sher Bhatti
Dr
Christine Bodemer
Grande round, dibattito
Sedie:
Professor Jouni Uitto, Professor Jo-David Fine
Professor
Jouni Uitto
Professor
Jo-David Fine
Comitato scientifico
  • Professor
    Johann Bauer
    Head of SPC
    Paracelsus Medical University,
    Austria
  • Professor
    Martin Laimer
    Segretario di SPC
    Università di Medicina Paracelso,
    Austria
  • Professor
    Cristina Has
    Università di Friburgo,
    Germania
  • Professor
    Helmut Hintner
    EB House Austria,
    Austria
  • Professor
    Peter Marinkovich
    EB House Austria,
    Austria
  • Professor
    Jemima Mellerio
    St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust,
    Regno Unito
  • Professor
    Anna Bruckner
    Università del Colorado,
    stati Uniti
  • MD, PhD
    Julia Kotalevskaya
    Istituto regionale di ricerca e clinica di Mosca (MONIKI),
    Russia
  • Professor
    Nikolay Murashkin
    Centro nazionale di ricerca medica per la salute dei bambini,
    Russia
SEDIE
  • Professor Johann Bauer
    Il dott. Bauer è un dermatologo certificato dal consiglio di amministrazione, professore e presidente presso il Dipartimento di dermatologia, Ospedale universitario di Salisburgo dal 2014. Qui è direttore dell'EB House Austria, il centro nazionale per i pazienti con epidermolisi bollosa in Austria. Ha una lunga esperienza nella diagnosi molecolare, nella gestione e nella ricerca su biologia della pelle/malattie vescicali, invecchiamento cutaneo e neurobiologia della pelle. Il suo principale interesse è lo sviluppo di nuove terapie per i pazienti affetti da epidermolisi bollosa, malattia della pelle con vesciche.
  • Professor Peter Marinkovich
    Professore Associato di Dermatologia e uno dei membri fondatori del Program in Epithelial Biology, Stanford University School of Medicine. Il suo lavoro si concentra sulla biologia della membrana basale e sullo sviluppo traslazionale di terapie molecolari per l'epidermolisi bollosa. Era un ex medico curante nel Registro Nazionale EB dal 1995 al 2000 ed è il direttore della clinica per le malattie bollose presso la Stanford University. I suoi team di ricerca scientifica e clinica di base sono attualmente impegnati in diversi studi in corso sulla terapia genica per l'epidermolisi bollosa.
  • Professor Jemima Mellerio
    L'esperienza clinica del Prof. Mellerio riguarda una malattia genetica della pelle, in particolare l'EB, altre malattie genetiche della pelle e la dermatologia pediatrica. Le sue attività di ricerca si concentrano su nuove terapie traslazionali per genodermatosi come approcci di terapia cellulare e genica per l'EB e altre malattie genetiche della pelle.

    St John's Institute of Dermatology, Guy's & St. Thomas' NHS Foundation Trust, Regno Unito
  • Professor Leena Bruckner-Tuderman
    Professore e Cattedra di Dermatologia presso il Medical Center – Università di Friburgo. La sua ricerca si occupa della biologia delle membrane basali e della matrice extracellulare, delle cause molecolari e dei meccanismi patologici dei disturbi genetici e acquisiti della fragilità cutanea, nonché dello sviluppo di nuove terapie biologicamente valide. La sua esperienza include ricerca e lavoro clinico in Finlandia, Stati Uniti, Svizzera e Germania, nonché impegno in organizzazioni nazionali e internazionali. È stata presidente della European Society for Dermatological Research, della German Dermatological Society e vicepresidente della German Research Foundation.
  • Professor Helmut Hintner
    Dopo la sua formazione medica a Innsbruck (Austria) e un anno e mezzo di residenza presso il National Institutes of Health a Bethesda (USA), Helmut Hintner è stato a capo del Dipartimento di Dermatologia dell'Università di Medicina Paracelsus a Salisburgo dal 1992 fino al suo pensionamento nel 2014. È stato coinvolto nella creazione della EB House Austria a Salisburgo e co-fondatore di EB-CLINET e dal 2011 al 2014 è stato membro austriaco del Comitato europeo di esperti sulle malattie rare (EUCERD), responsabile per lo sviluppo di Centri di Competenza e Reti di Riferimento Europee. Helmut Hintner è anche coautore del libro “Life with Epidermolysis Bullosa (EB): Eziology, Diagnosis, Multidisciplinary Care and Therapy (disponibile in inglese, spagnolo, cinese e russo).
  • Professor Eli Sprecher
    La ricerca del Prof. Sprecher si concentra sulle basi genetiche delle malattie della pelle. Il suo gruppo mira a comprendere la genetica molecolare di tratti semplici e complessi, decifrarne la patogenesi e quindi tentare di tradurre queste nuove conoscenze in strumenti terapeutici innovativi.
  • Dr Su Mar Lwin
    La ricerca del Dr. Lwin si concentra sulle terapie traslazionali; attualmente sta conducendo un progetto finanziato da DEBRA per sviluppare la terapia genica spray per RDEB. Espande ulteriormente i suoi interessi nel svelare i complessi meccanismi alla base dell'EB e più ampie applicazioni cliniche di terapie avanzate.
  • Professor Dedee Murrell
    L'attuale ricerca del Professor Murrell si concentra sullo sviluppo e la convalida di misure di esito clinico per l'EB e le malattie vescicali autoimmuni, che hanno consentito agli studi clinici di procedere in queste malattie orfane.
  • Professor Martin Laimer
    Professore di Dermatologia e Vice Capo del Dipartimento di Dermatologia e Allergologia, Ospedale Universitario dell'Università di Medicina Paracelsus di Salisburgo. Dirige inoltre il Clinical Study Center della EB House Austria, un centro nazionale di competenza designato per l'epidermolisi bollosa all'interno della ERN (European Reference Network) Skin. Il Dr Laimer lavora sia clinicamente che scientificamente nel campo delle malattie rare, con un particolare interesse per l'Epidermolisi bollosa, da quasi 20 anni. Nel 2014 è stato nominato co-presidente del consiglio di amministrazione del Centro di Salisburgo per le malattie rare e dal 2018 dirige inoltre l'Accademia austriaca per l'educazione dermatologica. Nel 2020 è stato eletto segretario generale della Società austriaca di dermatologia e venereologia.
  • Professor Anna Bruckner
    University of Colorado, United States.
  • Dr Anja Diem
    Il Dr. Diem è strettamente coinvolto nella ricerca clinica, coordina la collaborazione multidisciplinare a livello locale, nazionale e internazionale ed è autore o coautore di numerose pubblicazioni scientifiche ed educative, tra cui un "Manuale EB" multilingue e orientato al paziente.
  • Dr Anna Martinez
    Il Dr. Martinez è un importante contributore alla ricerca nel campo della dermatologia pediatrica, in particolare EB. È Chief Investigator e Principal Investigator di un programma continuo di studi clinici su nuove terapie in dermatologia pediatrica.
  • Professor Nikolay Murashkin
    National Medical Research Center for Children's Health, Russia.
RELATORI
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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