INTERNATIONAL SYMPOSIUM ON EPIDERMOLYSIS BULLOSA

这是为资助一个国际研讨会而申请的资金。 遗传性大疱性表皮松解症(EB)一个基础广泛的计划是 有计划的，包括对正在进行的临床发现的深入讨论 以及与电子商务相关的基础研究。领先的EB研究人员和临床医生 被选中是为了代表国际视角。这 计划将作为第一个公共论坛进行演示和 讨论将生成和分析的数据作为 全国大疱性表皮松解症登记处。这些发现将被比较 与来自欧洲的调查人员(联合王国、德国； 斯堪的纳维亚半岛)、日本，可能还有俄罗斯、南非和/或 中东。一种新描述的统计技术(分类和 回归树；CART)将在以下尝试的上下文中讨论 利用收集的特定临床形态发现来 准确定义遗传性EB患者并对其进行亚型划分。同样， 将讨论最近生成的灵敏度/特异度 已应用于超微结构和 皮肤活检中的免疫组织化学结果 诊断和细分。作为临床部分的最后一部分 在这次会议上，将举行关于产前诊断的小型座谈会， 癌变与EB，以及治疗。 将用半天的时间进行小组讨论，讨论最新的发现 由分子生物学方法应用于 对电子商务的研究。主要焦点将放在营养不良和单纯型上。 因为目前有合适的分子探针可用。然而， 还将分配时间讨论任何可用在 EB的连词形式。这些讨论将主要集中在 来自多个实验室的与特定基因图谱相关的发现 选定EB亚型的基因突变。充满希望的，这样的讨论将 为进一步研究更多的亲缘关系和EB奠定基础 亚型，以及临床表型或预后的比较 特征和由克隆技术定义的特征。 为了确保国际调查人员的最大参与，这 研讨会计划在年会之前举行。 皮肤病研究学会(SID)。伊利诺伊大学 北卡罗来纳州的教堂山被选为研讨会地点， 因为它同时是临床中心和数据中心的所在地 全国大疱性表皮松解症登记协调中心 随时可以从欧洲和主要城市直达航班 在美国境内，并可轻松访问巴尔的摩的网站 参加明年的希德会议。已经作出安排，让 本研讨会论文集作为 皮肤病研究杂志，目前也在 在主办机构内。

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.