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    Research advances yield new treatments for skin disease

    Genetic and pharmacogenomic research has resulted in targeted treatments for diseases affecting the skin, ranging from Marfan syndrome to melanoma, said an expert Friday at the 74th Annual Meeting of the American Academy of Dermatology, in Washington D.C.

    Stephen I. Katz, M.D., Ph.D."In the area of pharmacogenomics, we now know a lot about how one's genetic makeup affects how we respond to certain medications," said Stephen I. Katz, M.D., Ph.D. "The best example involves toxic epidermal necrolysis/Stevens-Johnson syndrome (TEN/SJS): the Han Chinese face a 1,000-fold to 10,000-fold greater risk of developing TEN/SJS as a reaction to certain medications if they have the human leukocyte antigen allele HLA-B*1502. "In some countries, regulators have mandated that people must be tested for this allele before taking certain drugs." Dr. Katz is director of the National Institutes of Health’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).

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    Regarding rare diseases, he adds, "It's astounding — we never thought we could biochemically influence some diseases involving the skin structure. Now we know what genes are involved in Marfan syndrome, for example. A mutation in the fibrillin-1 gene affects the transforming growth factor beta (TGF-β) pathway, making people much more sensitive to the effects of TGF-β. As a consequence, drugs that inhibit TGF-β binding have been developed or were already on the market. Angiotensin inhibitors have an effect on TGF-β and can prevent aortic dilatation, which predisposes patients to aortic coarctation."

    NEXT: Microbial influence

    John Jesitus
    John Jesitus is a medical writer based in Westminster, CO.

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