Luke's Tuberous Sclerosis Page
TSC Research |
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Below is a brief summary of activity in Tuberous Sclerosis Research; although to read the scientific abstracts from the most recent Tuberous Sclerosis Conference in the following topics then double-click on the following: Tuberous Sclerosis research generally falls into one of two categories: clinical research and basic science research. Clinical research includes studies examining diagnosis and treatment for people with tsc. Basic science research is aimed at understanding the causes and actions of the disease at a scientific level. TSC is thought to be caused by mutation of either chromosome 9 (TSC 1 gene) or chromosome 16(TSC 2 gene). The TSC2 gene has been found (9q34 is the place on the genetic map) and has been cloned. This has lead to discovery of tuberin. There are two known genes that are thought to be responsible for causing Tuberous Sclerosis. The gene(TSC2) on Chromosome 16 has already been found and mapped out. The gene(TSC1) on Chromosome 9 has been located but is being studied at this time. It is believed that on the TSC2 gene that "Tuberin" could possibly be the missing protein that is not produced in TS patients which suppresses tumors throughout the body. If this is the case and Tuberin can be reproduced, genetic therapy could possibly be administered thereby controlling tumor production in a patient with Tuberous Sclerosis and eliminating the complications. Tuberin research is being performed in several areas of the country including with Dr. Hope Northrup in Houston, Texas. At her lab, the tuberin protein is being analyzed with rats. We hope that Dr. Joseph Rodriguez will be able to do more research during Medical School. Another benefit of genetic research would be genetic testing for Tuberous Sclerosis individuals and families to determine who carried the TS gene. Some estimate the incidence of spontaneous mutation to be as high as sixty percent of people carrying the Tuberous Sclerosis. This kind of a test would result in early diagnosis and treatment. Our family has donated blood for Tuberous Sclerosis research. There have been other families that from this kind of analysis had their genetic make-up studied which indicated that they do not carry the same TSC gene that their child carried. This medical breakthrough may lead to a Tuberous Sclerosis genetic test available at some point in time for all families. This would not only lead to early diagnosis but also assist families considering future children. Tuberous Sclerosis research will also benefit other disorders affected through increased understanding of genetics, tumor development, autism, epilepsy, renal, neurological involvement, behavior, language development, dermatological and others subtopics. Topics recently discussed included Tuberin expression in human and mouse tissue, diagnosis or Tuberous Sclerosis, genetic and clinical, screening strategies, neuroimaging, treatment strategies and future directions of TS research. The abstracts from this Symposium can be accessed by double-clicking on the above links. The Tuberous Sclerosis Alliance supports research that studies the clinical and behavioral manifestations of Tuberous Sclerosis. To know when the next TSC International Research Symposium will be held reference the www.tsalliance.org website. This home page is intended to be a family resource for families affected by Tuberous Sclerosis. It does not intend to constitute medical advise. Viewers are warned not to take any action with regard to medical treatment relying on the information provided on this page without first consulting the patient's physician.
Deanna Runyan-Wall E-mail address: deannadawn@lukets.org Last updated: April 5, 2008 Created: December 5, 1996 |
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