Core B consists of three separate but integrated sectionsdesigned to facilitate successful completion of the aims and studies performed in Projects I, II and III, and Core A. It is designed to provide cells, genetic material and molecular diagnostic information to aid in the design and construction of therapeutic gene delivery systems for JEB patients. The cell culture section will accession all EB skin and blood samples, bank genetic material, growth and freeze EB keratinocytes, fibroblasts, endothelial cells and immortalize keratinocytes and lymphocytes. It will provide other sections of Core B and the program projects with normal cells, immortalized cells and non-immortalized JEB cells for gene therapy. The molecular diagnostics section of Core B will provide detailed information about deficient or defective JEB candidate genes and gene products produced by patient skin cells both in situ and in vitro. It willfacilitate DNA mutation analysis of individual JEB pateints and families by narrowing the search for candidate gene mutations and interface with collaborators performing candidate gene polymorphism studies. The diagnostics section will provide ghe gene transfer section of Core B and all program projects with information needed to tailor design appropriate gene therapy vectors for individual JEB patients. The gene transfer and verification section of Core B will be responsible for the introduction of therapeutic genes into non-immortalized JEB keratinocytes, the testing of these engineered cells for any possible contamininants and the construction of monolayer keratinocyte autografts and organotypic dermal equivalents for JEB patient grafting. Core B will interface with Core A in three specific ways; 1) by accepting EB patient samples, 2) by providing diagnostion for clinicians and EB patients/families, and 3) by providing JEB keratinocyte autografts and tailor-disigned therapeutic gene delivery constructs for ex vivo gene therapy.
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