INTERNATIONAL SYMPOSIUM ON EPIDERMOLYSIS BULLOSA

点击翻译按钮获取中文摘要

This is an application for funding to support an international symposium on inherited epidermolysis bullosa (EB). A broadly based program is planned, encompassing in-depth discussion of finding of ongoing clinical and basic research related to EB. Leading EB researcher and clinicians have been chosen so as to represent an international perspective. This program will serve as the first public forum for presentation and discussion of the data being generated and analyzed as part of the National Epidermolysis Bullosa Registry. These findings will be compared with those of investigators from Europe (United Kingdom; Germany; Scandinavia), Japan and possibly also Russia, South Africa, and/or the Middle East. A newly described statistical technique (Classification and Regression Trees; CART) will be discussed in the context of attempts to utilize collections of specific clinical morphological findings to accurately define and subclassify patients with inherited EB. Similarly, discussion will be given on recently generated sensitivity/specificity analyses which have been applied to ultrastructural and immunohistochemical findings in skin biopsies for the purpose of diagnosis and subclassification. As a final part of the clinical portion of this conference, mini-symposia will be given on prenatal diagnosis, carcinogenesis and EB, and therapy. One half day will be devoted to panel discussions on the latest finding resulting from the application of molecular biologic approaches to the study of EB. The primary focus will be on dystrophic and simplex forms of EB, since suitable molecular probes are currently available. However, time will also be allocated for discussion of any finding available in junctional forms of EB. These discussions will focus primarily on finding from many laboratories that relate to the mapping of specific gene mutations in selected EB subtypes. Hopeful, such discussions will set the stage for the future study of additional kindreds and EB subtypes, and for comparison of clinical phenotypic or prognostic features and those defined by cloning techniques. To ensure the greatest participation by international investigators, this symposium has been scheduled to occur just prior to the annual meeting of the Society for Investigative Dermatology (SID). The University of North Carolina at Chapel Hill has been chosen as the symposium site, since it is the location of both a Clinical Center and the Data Coordinating Center for the National Epidermolysis Bullosa Registry, is readily available to direct flights from Europe and from major cities within the United States, and is easily accessible to Baltimore, the site for next year's SID meeting. Arrangements have been made to have the proceedings of this symposium published as a full supplement to the Journal of Investigative Dermatology, which is also currently located within the host institution.