Tuberous sclerosis complex (TSC) is a genetic disorder that affects approximately 1 in 6,000 individuals, meaning about 50,000 Americans and about one million individuals worldwide have this disease. It is an inherited disorder that affects multiple organs and is caused by mutation of one of two genes (TSC1 or TSC2) that regulate cell growth. Neurological and dermatological conditions are the most common features associated with this disease and vary from mild to severe symptoms.
The Tuberous Sclerosis Alliance TSC Biosample Repository was established to provide a central biobank at VARI’s Pathology and Biorepository Core for the collection of blood, tissues and cells from a vast number of individuals with TSC. The TSC Biosample Repository houses biosamples linked to detailed clinical data in the TSC Natural History Database, which will enable researchers to discover biomarkers, establish human cell lines or tissue arrays for drug testing, and search for clues to understand why TSC differs from person to person.
For further information on this resource and getting access to these samples, see the TS Alliance website.