Volz Andreas, Has Cristina, Schumann Hauke, Bruckner-Tuderman Leena
Department of Dermatology, University Medical Center Freiburg, Germany.
J Dtsch Dermatol Ges. 2007 Apr;5(4):274-9. doi: 10.1111/j.1610-0387.2006.06181.x.
In October 2003 the German network of excellence "Epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches" initiated its activities. The network partners are physicians and scientists working on epidermolysis bullosa (EB), basement membranes and structural proteins. The clinical partners and associated specialists improve interdisciplinary management of patients with EB and coordinate diagnostic and therapeutic procedures. Efficient molecular diagnostics consisting of antigen mapping and mutation analysis is offered in specialized centers. Using a highly productive information technology infrastructure, a central internet-based patient registry contains clinical,genetic and molecular data. The registry provides a platform for genotype-phenotype studies, epidemiological investigations, and for the identification of patients for future molecular therapies. Mouse models of different EB subtypes help elucidate causal disease mechanisms. Further scientific projects aim at understanding the normal mechanisms of epidermal adhesion to basement membranes, and protein-protein- and cell-ligand interactions, and their physiological regulation. These results will provide a foundation for developing novel therapeutic approaches for the causal treatment of EB.
2003年10月，德国卓越网络“大疱性表皮松解症：分子发病机制与新型治疗方法”启动了其活动。该网络的合作伙伴是致力于大疱性表皮松解症（EB）、基底膜和结构蛋白研究的医生和科学家。临床合作伙伴及相关专家改善了EB患者的跨学科管理，并协调诊断和治疗程序。专业中心提供了包括抗原定位和突变分析在内的高效分子诊断方法。利用高效的信息技术基础设施，一个基于互联网的中央患者登记库包含了临床、遗传和分子数据。该登记库为基因型 - 表型研究、流行病学调查以及为未来分子治疗确定患者提供了一个平台。不同EB亚型的小鼠模型有助于阐明疾病的因果机制。进一步的科研项目旨在了解表皮与基底膜粘附以及蛋白质 - 蛋白质和细胞 - 配体相互作用的正常机制及其生理调节。这些结果将为开发针对EB病因治疗的新型治疗方法奠定基础。
