PURPOSE OF REVIEW: Tuberous sclerosis complex (TSC) is a multiorgan genetic 
disease caused by mutations in the TSC1 or TSC2 genes. TSC has been recognized 
for many years as an important cause of severe neurological disease with 
patients suffering from epilepsy, developmental delay, autism, and psychiatric 
problems. During the last year, there have been enormous advances in basic and 
translational research pertaining to TSC.
RECENT FINDINGS: In this review, I discuss the basic science findings that 
position the TSC1 and TSC2 genes as critical regulators of the mammalian target 
of rapamycin kinase within mammalian target of rapamycin complex 1. In addition, 
I will discuss the development of new animal models, translational data, and 
recent clinical trials using mammalian target of rapamycin complex 1 inhibitors 
such as rapamycin.
SUMMARY: The past few years have seen spectacular advances that have energized 
TSC-related research and challenged existing symptomatic treatments. Although it 
remains to be seen whether use of mammalian target of rapamycin complex 1 
inhibitors will revolutionize the care of patients with TSC, the application of 
basic and translational research towards a specific clinical disorder emphasizes 
the potential and promise of molecular medicine.