FIRST Funded Research Projects | Foundation for Ichthyosis (FIRST)

Current Research Grants Funded by FIRST
A complete listing of FIRST-funded grants is on the right.

Epidermolytic Ichthyosis - Anders Valquist, MD, PhD, Hans Torma, PhD - 2010
		Studies on novel therapeutic options for epidermolytic ichthyosis affecting the skin barrier. Epidermolytic ichthyosis (EI, or epidermolytic hyperkeratosis) is a rare inherited disease characterized by blistering in the suprabasal layers of epidermis. The affected patients suffer life-long problems from a stiff, painful, and malodorous skin that is easily infected. No drugs are known to significantly or consistently improve the widespread blistering and scaling in EI.

EHK - Dennis R. Roop, PhD - 2009

Generating immortalized cell lines and iPS cells from EHK patients
There is no cure for epidermolytic hyperkeratosis (EHK). Therefore, novel gene therapy approaches become extremely attractive for this inheritable epidermal disease caused by single gene mutations in either keratin 1 or 10. In order to permanently correct epidermal diseases, it is necessary to design a therapeutic approach that is able to correct epidermal stem cells. Preliminary studies with a pre-clinical mouse model for EHK indicate the feasibility of ex vivo correction of mouse EHK cells followed by reconstitution of the skin in a graft model. Before this approach can be tested in humans, it is desirable to first test this ex vivo gene therapy with human EHK cells. For such purposes, large numbers of human EHK cells are required.

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FIRST-Funded Research Projects