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J Invest Dermatol. 2012 Mar;132(3 Pt 2):820-8. doi: 10.1038/jid.2011.389. Epub 2011 Dec 8.

Novel molecular therapies for heritable skin disorders.

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Departments of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.


Tremendous progress has been made in the past two decades in molecular genetics of heritable skin diseases, and pathogenic mutations have been identified in as many as 500 distinct human genes. This progress has resulted in improved diagnosis with prognostic implications, has refined genetic counseling, and has formed the basis for prenatal and presymptomatic testing and preimplantation genetic diagnosis. However, there has been relatively little progress in developing effective and specific treatments for these often devastating diseases. However, very recently, a number of novel molecular strategies, including gene therapy, cell-based approaches, and protein replacement therapy, have been explored for the treatment of these conditions. This overview will focus on the prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in which significant progress has been made recently toward treatment, and it will illustrate how some of the translational research therapies have already entered the clinical arena.

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