CORE--PATIENT CARE

核心A的总体目标是提供一个接口， 实验室和诊所通过协调转移 信息和技术最初集中于皮肤基因 隐性连接型EB患者的治疗， 长期目标是为主要形式的 EB. 核心A的主要目标是：a）提供更好的 B）测试基因治疗在JEB中的可行性， 一种模式，通过以下方式可以很容易地识别明确的成功 相对无创的手术。 我们将继续努力， 患者招募，重点是提供分子 为JEB患者提供诊断和遗传咨询。 加入 用于角质细胞扩增和异种移植的JEB皮肤样本 将为我们的研究提供一个 治疗性皮肤移植的潜在候选者。 我们将提供 携带特定遗传缺陷（无效等位基因）的JEB患者， 通过离体基因治疗的治疗基因的野生型拷贝 工程化角质形成细胞自体移植技术，脂质体 以及粒子介导的基因转移技术。 这个核心将是 负责病人护理的所有方面，从招聘到 治疗后随访，包括治疗，短期 治疗后监测、表型和基因型检测 治疗部位的恢复和长期随访。

The overall aim of Core A will be to provide an interface between the laboratory and the clinic by coordinating transfer of information and technology focused initially on cutaneous gene therapy of patients with Recessive Junctional EB, with the long term objective of providing gene therapy to Dominant forms of EB. The principal goals of Core A are to; a) provide a better therapy for JEB and, b) test the feasibility of gene therapy in a model whereby unambiguous success is readily identifiable by relatively noninvasive procedures. We will continue our work of patient recruitment with an emphasis on providing a molecular diagnosis and genetic counseling for patients with JEB. Accession of JEB skin samples for keratinocyte expansion and xenografting on SCID mice will provide our investigative effects wit a pool of potential candidates for therapeutic skin grafting. We will provide JEB patients that carry specific genetic defects (null alleles) with a wild type copy of the therapeutic gene by ex vivo gene therapy techniques of engineered keratinocyte autografting, liposome andparticle-mediated gene transfer techniques. This core will be responsible for allaspects of patient care, from recruitment to post-treatment follow-up, including treatment, short term post-treatment monitoring, testing of phenotypic and genotypic reversion and long term follow-up of treatment sites.