1. The Tuberous Sclerosis complex natural history database project
- Author
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Nakagawa, J. A., Whittemore, V. H., Cinkosky, M., Sparagana, S., Thiele, E., Brown, C., Frost, M., Mcclintock, W., Bebin, E. M., Kohrman, M., Northrup, H., Wu, J. Y., Levisohn, P., Koh, S., Gupta, A., Ashwal, S., Duchowny, M., Miller, I. O., Lajoie, J., Anna Jansen, and Public Health Care
- Subjects
Database ,congenital, hereditary, and neonatal diseases and abnormalities ,Tuberous sclerosis complex (TSC) ,nervous system diseases - Abstract
Rationale: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that affects about 50,000 Americans and an estimated one million people worldwide. This disorder affects any or all systems of the human body. Epilepsy is one of the leading conditions affecting individuals with TSC - up to 90%. TSC has the distinction of providing researchers with an opportunity to study co-morbid conditions in a disease with a known gene mutation on chromosome 9 and 16 (TSC1 and TSC2, respectively). A need was identified to develop a central repository of medical information that would expand the understanding of how TSC affects individuals at different times in their lives. The Tuberous Sclerosis Alliance launched the first ever comprehensive database in 2006 to meet this goal.
- Published
- 2009