Frontiers in Ichthyosis Research

DESCRIPTION (provided by applicant): Ichthyosis is the broad term used to describe several dozen rare, monogenic disorders of epidermal keratinization. Each year, more than 16,000 babies are born with some form of ichthyosis. Ichthyosis is disfiguring for most affected individuals and many suffer from pain in certain areas, such as the palms and soles. Some have medical complications, such as dehydration, recurrent infections, chronic blistering, and overheating. Syndromic forms of ichthyosis involve internal organs as well as the skin. Some patients with ichthyosis struggle with psychological issues, such as isolation, low self-esteem, and depression. The disease usually presents at birth, or within the first year, and continues to affect the patient until death. Ichthyosis affects people of all ages, races and gender and significantly impacts families beyond the affected individuals. Enormous progress in the identification of genes responsible for causing ichthyosis and in the elucidation of critically important functions of epidermis has occurred over the past twenty years. Simultaneously, independent organizations, such as F.I.R.S.T., have emerged to directly support patients'needs and, both directly and indirectly, support research in ichthyosis. There has never been an international meeting of investigators whose research has been stimulated by patients with ichthyosis or whose research has direct implications for those with ichthyosis. With the quickening pace of discovery in the basic biological sciences, there is broad enthusiasm to apply that information to real patient problems. This application is to support a meeting that will be an opportunity to foster collaboration between investigators and between patients and investigators. An international panel of experts has been chosen to present recent work, identify frontiers, and lead the discussion. Many recent discoveries relevant to ichthyosis have occurred in labs not traditionally focused on skin or skin disease. This meeting will be an opportunity for those investigators to be inspired by patients and learn from those with more experience in these rare diseases. We expect that at the conclusion of the meeting, a general consensusmight emerge concerning important new areas of research focus and fruitful areas of collaboration. In particular, it will be useful if new technologies can be identified which can be brought to bear on this group of diseases. Such a consensus also could help a variety of funding agencies establish research priorities.