Terms You Want to Know O - Z
- Proof of Concept Trials: Clinical trials, performed with a small number of patients, which are aimed at validating understanding of a disease mechanism while giving initial data about the efficacy and safety of an investigational treatment chosen to address that mechanism.
- Rapamycin (sirolimus): An immunosuppressive drug commonly given to transplant patients to avoid organ rejection. Rapamycin binds to and inhibits a key regulatory protein called the target of rapamycin (TOR).
- Rheb (Ras homolog enriched in brain): A protein that appears to activate nutrient signaling input to mTOR, in combination with the tuberin-hamartin complex.
- Systems Biology: The study of the dynamic networks of interacting biological elements. (R Aebersold. Institute for Molecular Systems Biology, Zürich, Switzerland)
- TOR (target of rapamycin): A key regulatory protein that processes biochemical signals necessary for a cell to progress from the G1 phase to the S phase.
- Translational Research: An approach to research in which basic science discoveries are translated into clinical applications and clinical observations in turn generate research projects for basic sciences.
- TSC1, TSC2: Genes that, when mutated, produce the tuberous syndrome complex. TSC1 and TSC2 produce the proteins hamartin and tuberin, respectively.
- Tuberin: A protein made by the TSC2 gene. Tuberin and hamartin, a protein produced by the TSC1 gene, function together in cells to regulate cell growth and prevent the overgrowth of cells into tumors.
- Tuberous Sclerosis Complex (TSC): A complex genetic (inherited) condition characterized by seizures and tumor growth in the brain, kidneys, heart, eyes, lungs and skin. Developmental delay, mental retardation and autism may also be associated with the disease. The disease affects some people severely, while others are mildly affected. Nearly 1 million people worldwide are known to have Tuberous Sclerosis. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. Approximately 39 percent of women with TSC also have LAM.
