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.
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