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Nov 13, 2012

Tackling a Rare Genetic Skin Disorder

  • GlaxoSmithKline (GSK) and Imagine Institute will work together to discover and develop medicines with the potential to treat Netherton syndrome, a rare, genetically inherited, severe skin disorder. The alliance will build on the work of Alain Hovnanian, M.D., Ph.D., at the Necker Children Hospital in Paris following new discoveries in the understanding of the underlying disease mechanisms guided by the identification of the disease gene.

    Work on the project will be carried out within GSK and both at the Genetics Department and Inserm unit U781 in Necker Hospital, Paris. The collaboration will operate as a single integrated team, combining Prof. Hovnanian’s disease and biology understanding with GSK’s expertise in drug discovery and development.

    “For the patients, this collaboration means the possibility of a novel treatment in an accelerated time frame,” comments Dr. Hovnanian, a professor of genetics and of dermatology.

    Dr. Hovnanian’s team at the Imagine Institute say they have characterized the biological cascade leading to allergy and to abnormal desquamation in Netherton syndrome. The cascade is initiated by kallikrein 5 hyperactivity as a result of defective inhibition by LEKTI, leading to PAR2 activation and TSLP production. The team says that KLK5 is thus a major therapeutic target, and they are currently searching for KLK5-specific inhibitors. Other biotherapy approaches aimed at blocking pro-inflammatory cytokines overexpressed in Netherton syndrome are also being considered.

    Imagine Institute is a newly established University Hospital Institute associated with Inserm/ University Paris Descartes. It is a a translational research institute dedicated to genetic diseases.


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