Released: May 14, 2013
TSC Global Awareness Day
The Tuberous Sclerosis Complex Research Program (TSCRP) is proud to recognize May 15, 2013, as the second annual TSC Global Awareness Day. TSC is a genetic disorder that is characterized by seizures, developmental delays, kidney disease, behavioral problems, and the growth of benign tumors (tubers) on vital organs such as the brain, kidneys, and heart. Although this disorder can be inherited as an autosomal dominant trait, two-thirds of cases are the result of a spontaneous genetic change on one of two genes, TSC1 or TSC2.
Some Facts about TSC1:
- More than 50,000 people in the United States have TSC; 1 million worldwide.
- Somewhere in the world, a child is born with TSC every 20 minutes.
- TSC shows no gender bias and occurs in all races and ethnic groups.
- TSC is the leading genetic cause of epilepsy and autism.
- Seizures occur in up to 90% of people with TSC.
- Many infants with TSC are now diagnosed soon after birth thanks to prenatal identification of heart rhabdomyomas during routine ultrasound testing.
- Facial angiofibromas generally appear by age 5 years and affect up to 90% of individuals with TSC.
- Lymphangioleiomyomatosis, or LAM, is the primary pulmonary feature of TSC occurring almost exclusively in females in up to 40% of those with TSC after puberty.
- 98% of those diagnosed with TSC will experience one or more skin manifestations.
- 80% of those diagnosed with TSC will experience kidney problems due to TSC.
- There is no cure for TSC.
The TSCRP, initiated in 2002, has funded 88 projects from Fiscal Year 2002 (FY02) to FY11 and recommended an additional 9 projects for funding in FY12. Some key achievements supported by the TSCRP include:
- Research findings from multiple TSCRP-funded investigators contributed to the knowledge that the TSC genes play a role in cell growth and proliferation through control of the mammalian target of rapamycin (mTOR) pathway. This early research rapidly led to the development of animal models and subsequent clinical trials resulting in the first drug approved by the U.S. Food and Drug Administration specifically for treatment of individuals with TSC in 2010.
- Dr. Steven Sparagana developed a comprehensive clinical database of TSC cases that documents the natural history and variability of TSC over the lifespan of individuals with the disease. Currently this database contains information on 1,187 individuals with TSC from 16 participating clinics in the United States. The database is currently being maintained by the TS Alliance. For more information go to http://www.tsalliance.org/pages.aspx?content=560
- Dr. Angelique Bordey developed an animal model that will allow TSC researchers to study the development of cortical tuber lesions at specific time points during embryonic development.
- Dr. Mary Kay Koenig, launched a clinical trial in 2012 to investigate the safety and efficacy of use of topical rapamycin for the treatment of cutaneous angiofibromas.