Tuberous sclerosis complex (TSC) is a tumor syndrome affecting an estimated 1 in 6,000 to 10,000 births. The disease is generally diagnosed either in utero or within the first few years of childhood. The clinical manifestations include the development of widespread benign tumors most commonly affecting the brain, skin, kidneys, heart, and lungs. Varied neurological and cognitive deficits, including epilepsy, mental retardation, and autism, are very common and represent the most severe features of TSC. This research project uses preclinical approaches in cell culture and rodents to test new targeted therapeutics for the treatment of TSC. These approaches take full advantage of our current understanding of the biochemical pathways that are defective in the tumors of TSC patients. Our approach is unique in that we are targeting a new area within these pathways. Whereas TSC therapeutics currently being tested in the clinic simply block further tumor growth, we believe that our approach will result in the destruction of tumor cells and tumors. The results of our study have the potential to translate rapidly into clinical trials, as one of the compounds we are testing is already FDA approved for the treatment of specific cancers. Finally, while our study is specific to TSC, the outcome will impact our understanding and treatment of a large percentage of human cancers, which frequently have defects in the same biochemical pathways. |
