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DESCRIPCIÓN DEL PROGRAMA
DESCRIPCIÓN DEL PROGRAMA
Profesionales de la salud, investigadores, científicos de todo el mundo se reúnen para compartir experiencias, obtener consejos prácticos y debatir sobre tecnologías de vanguardia e investigación innovadora en el campo de la EB.

Programa diario:
DESCARGAR EL PROGRAMA
Workshop: Family Forum with the Health Professionals
Workshop: Nutrition
Workshop: Update on Outcome Measures
Workshop: Update on Registries
DÍA 1
16 de Septiembre (Jueves)
Ceremonia de apertura
Investigación básica y preclínica
Historia Natural
Talleres de gestión DEBRA
(Solo grupos DEBRA)
Professor
Jemima Mellerio
Professor
Cristina Has
Associate Prof.
Anna Bruckner
Dr.
Anna Martinez
Sillas:
Professor Jemima Mellerio
Oradoras de la sección:
Sillas:
Professor Johann Bauer, Professor Peter Marinkovich
Oradoras de la sección:
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
Presentaciones cortas
Professor
Alain Hovnanian
Professor
Mbarka Bchetnia
Kate Carroll
Professor
Hannelore Breitenbach-Koller
Sillas:
Professor Alain Hovnanian
Oradoras de la sección:
Dr
Laura Trefzer
Araksya Izmiryan
DIA 2
17 de Septiembre (Viernes)
Sesión de directrices (solo por invitación)
Ensayos clínicos 1
Experiencia internacional de EB y soporte internacional

Las pacientes y las organizaciones de pacientes son bienvenidas!
Ensayos clínicos 2
Talleres para médicos participantes: foros profesionales (solo con invitación)
Dr
Su Mar Lwin
Professor
Peter Marinkovich
Professor
Eli Sprecher
Sillas:
Professor Leena Bruckner-Tuderman, Professor. Helmut Hintner
Oradoras de la sección:
Professor
Dedee Murrell
Sillas:
Professor Eli Sprecher, Dr. Su Mar Lwin
Oradoras de la sección:
Professor
Amy Paller
Professor
Michele De Luca
Dr
Dimitra Kiritsi
Simposio satélite Drug Development - ¿De Dónde vienen nuestros Medicamentos?
Dr
Maya El Hachem
BSc Martin Geroldinger
Presentado por:
Amryt Pharma
MSc Georg Zimmermann
Dr
Florian Lagler
Nuevos datos clínicos-actualización de las guías de práctica clínica
Ponente de la sección:
Professor
Martin Laimer
Cómo diseñar un ensayo clínico?
Oradoras de la sección:
Angélique Sauvestre
Professor
Jean Y. Tang
Suma Krishnan
DÍA 3
18 de Septiembre (Sábado)
Atención y manejo clínico
Dirigirse a los desafíos terapéuticos
Talleres de gestión DEBRA
(Solo grupos DEBRA)
Sillas:
Professor Dedee Murrell, Professor Martin Laimer
Sillas:
Associate Prof. Anna Bruckner, Dr. Anja Diem
Ph.D.
Gregory Zinoviev
Dr.
Alexander Pleshkov
Oradoras de la sección:
Ph.D.
Tariq Khan
Oradoras de la sección:
MD.
Kenneth Goldschneider
Prof. Dr. Dr.
Martin Steinhoff
Dr.
Antonia Reimer
Professor
Nikolay Murashkin
Professor
Jemima Mellerio
Professor
Adrian Heagerty
Dr
Christina Guttmann-Gruber
DÍA 4
19 de Septiembre (Domingo)
Atención multidisciplinar
Gran ronda, debate del panel; Presidentes: Profesor Jouni Uitto, Profesor Jo-David Fine
Ceremonia de clausura
Dr
Anja Diem
Sillas:
Dr. Anna Martinez, Professor Nikolay Murashkin
Oradoras de la sección:
Dr
Alexander Pleshkov
Dr
Margarita Geht
Dr
Anna Martinez
Dr
Jan-Sher Bhatti
Dr
Christine Bodemer
SILLAS
  • Professor
    Johann Bauer
    Jefe de SPC
    Universidad Médica de Paracelso,
    Austria
  • Professor
    Martin Laimer
    Secretario de SPC
    Universidad Médica de Paracelso,
    Austria
  • Professor
    Cristina Has
    Universidad de Friburgo,
    Alemania
  • Professor
    Helmut Hintner
    EB House Austria,
    Austria
  • Professor
    Peter Marinkovich
    Universidad Stanford,
    Estados Unidos
  • Professor
    Jemima Mellerio
    St John's Institute of Dermatology, Guy's & St. Thomas 'NHS Foundation Trust,
    Reino Unido
  • Professor
    Anna Bruckner
    Universidad de Colorado,
    Estados Unidos
  • MD, PhD
    Julia Kotalevskaya
    Instituto Regional de Investigación y Clínica de Moscú (MONIKI),
    Rusia
  • Professor
    Nikolay Murashkin
    Centro Nacional de Investigaciones Médicas para la Salud Infantil,
    Rusia
SILLAS
  • Professor Johann Bauer
    El Dr. Bauer es dermatólogo certificado por la junta, profesor y presidente del Departamento de Dermatología del Hospital Universitario de Salzburgo desde 2014. Aquí es Director de EB House Austria, el centro nacional para pacientes con epidermólisis ampollosa en Austria. Tiene una dilatada experiencia en diagnóstico molecular, gestión e investigación de la biología cutánea / enfermedades ampollosas, envejecimiento cutáneo y neurobiología de la piel. Su principal interés es desarrollar terapias novedosas para pacientes que padecen la epidermólisis ampollosa, enfermedad cutánea con ampollas.
  • Professor Peter Marinkovich
    Profesor Asociado de Dermatología y uno de los miembros fundadores del Programa de Biología Epitelial de la Facultad de Medicina de la Universidad de Stanford. Su trabajo se centra en la biología de la membrana basal y en el desarrollo traslacional de terapias moleculares para la epidermólisis ampollosa. Fue médico de cabecera en el Registro Nacional de EB de 1995 a 2000, y es Director de la Clínica de Enfermedades Bullosas en la Universidad de Stanford. Sus equipos de investigación clínica y de ciencia básica participan actualmente en varios ensayos en curso de terapia génica para la epidermólisis ampollosa.
  • Professor Jemima Mellerio
    La experiencia clínica de la profesora Mellerio es una enfermedad genética de la piel, en particular la EB, otras enfermedades genéticas de la piel y la dermatología pediátrica. Sus actividades de investigación se centran en nuevas terapias traslacionales para las genodermatosis, como enfoques de terapia celular y genética para la EB y otras enfermedades genéticas de la piel.

    St John's Institute of Dermatology, Guy's & St. Thomas 'NHS Foundation Trust, Reino Unido
  • Professor Leena Bruckner-Tuderman
    Profesora y catedrática de Dermatología en el Centro Médico de la Universidad de Friburgo. Su investigación se centra en la biología de las membranas basales y la matriz extracelular, en las causas moleculares y los mecanismos de enfermedad de los trastornos genéticos y adquiridos de la fragilidad de la piel, así como en el desarrollo de terapias novedosas y biológicamente válidas. Su experiencia incluye trabajos de investigación y clínicos en Finlandia, Estados Unidos, Suiza y Alemania, así como la participación en organizaciones nacionales e internacionales. Ha sido presidenta de la Sociedad Europea de Investigación Dermatológica, de la Sociedad Dermatológica Alemana y vicepresidenta de la Fundación Alemana de Investigación.
  • Professor Helmut Hintner
    Tras su formación médica en Innsbruck (Austria) y una residencia de un año y medio en los Institutos Nacionales de Salud de Bethesda (EE.UU.), Helmut Hintner fue director del Departamento de Dermatología de la Universidad Médica Paracelsus de Salzburgo desde 1992 hasta su jubilación en 2014. Participó en la creación de la EB House Austria en Salzburgo y fue cofundador de EB-CLINET, y de 2011 a 2014 fue el miembro austriaco del Comité de Expertos en Enfermedades Raras de la UE (EUCERD), responsable del desarrollo de Centros de Expertos y Redes de Referencia Europeas. Helmut Hintner es también coautor del libro "Life with Epidermolysis Bullosa (EB): Etiología, diagnóstico, atención multidisciplinar y terapia" (disponible en inglés, español, chino y ruso).
  • Professor Eli Sprecher
    La investigación del profesor Sprecher se centra en la base genética de las enfermedades de la piel. Su grupo pretende comprender la genética molecular de rasgos simples y complejos, descifrar su patogénesis y, a continuación, intentar traducir este nuevo conocimiento en herramientas terapéuticas innovadoras.
  • Dr Su Mar Lwin
    La investigación de la Dra. Lwin se centra en la terapéutica traslacional; actualmente lidera un proyecto financiado por DEBRA para desarrollar una terapia génica en spray para la RDEB. Además, está interesada en desentrañar los complejos mecanismos que subyacen a la EB y en las aplicaciones clínicas más amplias de la terapéutica avanzada.
  • Professor Dedee Murrell
    La investigación actual de la profesora Murrell se centra en el desarrollo y la validación de medidas de resultados clínicos para la EB y las enfermedades ampollosas autoinmunes, lo que ha permitido la realización de ensayos clínicos en estas enfermedades huérfanas.
  • Professor Martin Laimer
    Profesor de Dermatología y Jefe Adjunto del Departamento de Dermatología y Alergología, Hospital Universitario de la Universidad Médica Paracelso de Salzburgo. Además, dirige el Centro de estudios clínicos de EB House Austria, un centro nacional designado de experiencia para la epidermólisis ampollosa dentro de la ERN (Red europea de referencia) Skin. El Dr. Laimer trabaja tanto clínica como científicamente en el campo de las enfermedades raras, con especial interés en la Epidermólisis ampollosa, durante casi 20 años. En 2014 fue nombrado copresidente de la Junta Directiva Ejecutiva del Centro de Enfermedades Raras de Salzburgo y además dirige la Academia Austriaca de Educación Dermatológica desde 2018. En 2020 fue elegido Secretario General de la Sociedad Austriaca de Dermatología y Venereología.
  • Professor Anna Bruckner
    University of Colorado, United States.
  • Dr Anja Diem
    El Dr Diem participa estrechamente en la investigación clínica, coordina la colaboración multidisciplinaria a nivel local, nacional e internacional, y es autor o coautor de numerosas publicaciones científicas y educativas, incluido un “manual de EB” multilingüe y orientado al paciente.
  • Dr Anna Martinez
    La Dr. Martínez es un importante contribuyente a la investigación en el campo de la dermatología pediátrica, en particular la EB. Ella es investigadora principal e investigadora principal en un programa continuo de clínicas
  • Professor Nikolay Murashkin
    National Medical Research Center for Children's Health, Russia.
PONENTES
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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