University of Nebraska Medical Center, Omaha, NE
|Dr. William Rizzo|
“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,” said Dr. Rizzo.
Most recently, Dr. Rizzo has partaken in the STAIR Consortium, an international multi-center, collaborative research project focusing on genetic diseases that are caused by defects in Sterol (cholesterol) And IsopRenoid metabolism. “The funding from FIRST in 2006 helped us to bring the research to a new level and to the point where the NIH was interested in funding this unique, collaborative effort.”
The STAIR Consortium’s goal is to establish the natural history of rare diseases, identify biomarkers for future therapy studies, investigate new treatments, discover new diseases, and train new physicians/researchers to work on rare diseases. Dr. Rizzo, one of the world’s leading researchers of Sjögren-Larsson syndrome explained, “Access to biological data from as many patients as possible is critical for understanding the disease.” He further emphasized that the input from patient advocacy groups and their membership base is a necessary part of this type of research collaboration. STAIR is currently working with seven patient advocacy groups worldwide, including FIRST.
Sjögren-Larsson syndrome (SLS) is a form of ichthyosis that is associated with neurologic symptoms of spasticity and mental retardation. The ichthyosis is present at birth and has a disturbing itchy characteristic. Like most other types of ichthyosis, no specific treatment is available. SLS is caused by mutations in a gene that normally makes an enzyme called fatty aldehyde dehydrogenase, which is necessary for lipid (fat) metabolism. This enzyme acts on several related lipids. We hypothesize that defective metabolism of one of these lipids is responsible for causing the ichthyosis, but it is not yet known which one. Recently, the research team headed by Dr. Judith Fischer in Paris has found that genetic defects in metabolism of a group of lipids called 12R-eicosanoids cause certain forms of ichthyosis. There is reason to suspect that fatty aldehyde dehydrogenase is also necessary for metabolizing 12-eicosanoid lipids. The research grant from FIRST has given us the resources to begin investigating whether defective metabolism of 12R-eicosanoids is responsible for the ichthyosis in SLS. Using a variety of biochemical and molecular techniques, our lab is studying the 12R-eicosanoid pathway in cultured skin cells (keratinocytes) from SLS patients. If metabolism of this lipid is found to be defective, our research would point to new therpeutic approaches for treating SLS and other forms of ichthyosis caused by abnormalities in the 12R-eicosanoid pathway.
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