Trial Information

Clinical and Genetic Studies of the Scaling Disorders and Other Selected Genodermatoses

We propose to investigate the genetics of the scaling disorders and other genodermatoses
which are believed to behave in a Mendelian manner. Families for study will be ascertained
through articles in the Ichthyosis Focus, (the newsletter of the Foundation for Ichthyosis
and Related Skin Types), physician referrals, and patient self-referrals. Efforts will be
made to further characterize the clinical findings in both affected persons and unaffected
gene carriers. Using candidate genes, especially those known to be involved in structural
abnormalities of skin, we will attempt to map and isolate major genes contributing to
expression of the disease phenotype. Failing this direct approach, a random search of the
genome (so-called, "reverse genetics") will be utilized. In addition, normal and diseased
skin will be used in cell culture and animal experiments (under a separate protocol) to test
new therapeutic modalities.