Development of Genetic Therapies for the Hemidesmosomal Subtypes of Junctional Epidermolysis Bullosa
Abstract
When this project began in 1999, during the first year of the grant, the ultimate goal of genetic therapy as conceived at the time was to permanently introduce new DNA into a patient's somatic cells to express a therapeutic gene product. Much of the excitement about gene therapy in recent years originates from spectacular successes in understanding the pathomechanisms of mutations in disease genes, together with rapid technological advances in cell culture and manipulation, tissue engraftment and methods of gene transfer and delivery. In the skin, much of this progress has stemmed from understanding the structural features of the epidermis and dermal-epidermal junction, largely through molecular cloning of genes which encode proteins critical for its integrity, and has led to the definition of the molecular basis of several heritable disorders. The prototype of these conditions is epidermolysis bullosa, which manifests with blistering and erosions of the skin and mucous membranes spontaneously or as a result of minor trauma. At the ultrastructural and histological level, the blisters characteristic of hemidesmosomal subtypes of junctional EB are very similar to those induced by chemical vesicants such as sulphur mustard.
Document Details
- Document Type
- Technical Report
- Publication Date
- Nov 01, 2000
- Accession Number
- ADA410859
Entities
People
- Angela M. Christiano
Organizations
- Columbia University