The Foundation's Research Grant Program, officially launched in January of 2006, has completed its first year with the receipt and review of several worthy projects and the decision to fund four of those projects. Projects have been selected in the categories of Epidermolytic Hyperkeratosis (EHK), Lamellar/Congenital Ichthyosiform Erythroderma (CIE), Sjögren-Larsson Syndrome, and ichthyosis-related research, and contracts are being negotiated with the investigators institutions.

Dr. Dennis Roop and his colleague Dr. Jiang Chen at Baylor College of Medicine in Houston, Texas, have been selected to receive $75,000 for their project titled "Testing Therapeutic Approaches for Epidermal Hyperkeratosis Using a Preclinical Mouse Model." Drs. Roop and Chen have developed a genetically engineered mouse in which they have been able to generate areas of EHK on the mouse's skin and paws. They will use this mouse model to test strategies to suppress or correct the expression of one of the mutant genes that causes EHK. This project is relevant to the mission of the Foundation and the interests of its members because, according to Dr. Roop, "Besides symptomatic care, no effective treatment is available for EHK. If the preclinical studies described above are successful, these strategies could be used to treat EHK patients."

Dr. Judith Fischer of the Centre National de Génotypag in Evry, France, has been selected to receive $75,000 for her project, titled "Genetic and Clinical Studies of Autosomal Recessive Congenital Ichthyoses Belonging to the 12(R)- lipoxygenase Pathway." Dr. Fischer will be working to identify mutations in the 7 genes that are known to cause the autosomal recessive ichthyoses (ARCI), specifically lamellar ichthyosis and CIE. Dr. Fischer is collaborating with our own medical advisors, Dr. Philip Fleckman and Dr. Leonard Milstone, and will be utilizing genetic material from the National Registry for Ichthyosis and Related Disorders. Dr. Fischer's project is relevant to the mission of the Foundation and the interests of our members because: "The results of this project should lead to a better understanding of the metabolic pathways involved in the pathogenesis of ARCI and should provide potential targets for treatments."

Dr. William Rizzo of the University of Nebraska Medical Center, Omaha, Nebraska, has been selected to receive $50,000 for his project, titled "Ichthyosis and 12R-Eicosanoid Metabolism in Sjögren-Larsson Syndrome." Dr. Rizzo is looking at a defective lipid (fat) metabolic pathway that is seen in Sjögren-Larsson Syndrome (SLS) and several other genetic forms of ichthyosis. Dr. Rizzo's project is relevant to the mission of the Foundation and the interests of our members because: "Therapy of the ichthyosis in SLS is non-specific. Our research may lead to new approaches for cutaneous therapy for selectively bypassing the metabolic block in lipid metabolism and providing the metabolites that cannot be made by SLS patients."

Dr. Eli Sprecher and his colleague Dr. Dina Ron of Technion - Israel Institute of Technology, Haifa, Israel, have been selected to receive $50,000 for their project, titled "SNAP29 - A Novel Regulator of Epidermal Differentiation." Drs. Sprecher and Ron will be investigating the role of a small protein molecule in the physiological pathway that is important to normal skin development and function. Drs. Sprecher and Ron's project relates to the mission of the Foundation and the interests of our members because: "The data gleaned in the course of this research are expected to establish, for the first time, the importance of SNAP29 during epidermal differentiation and to shed light on its specific roles during this process. Establishing the role of SNAP29 during cornification may point to possible use of SNAP29 as a diagnostic marker as well as a therapeutic target for a number of inherited and acquired disorders of cornification."

The Foundation wishes to thank all of our medical and scientific advisors who helped develop the research grant program and guided us through this first year. In particular, we would like to thank those scientists and physicians who volunteered their time to serve on the Research Review Committee. These talented and experienced individuals had the daunting task of reviewing the work of their peers in the ichthyosis community and deeming it worthy of the Foundation's mission, and the funds that so many of you have generously contributed over the past few years.