A new white paper from the Tuberous Sclerosis Alliance (TS Alliance), entitled Unlocking a Cure for Tuberous Sclerosis Complex: An Assessment of Scientific Progress and Research Needs, concludes that research on the rare genetic disease “is poised for providing new therapies that modify progression of the disease, and possibly even prevent some the most devastating manifestations,” according to the publication’s author, Vicky Holets Whittemore, Ph.D.  Dr. Whittemore formerly served as the TS Alliance’s Chief Scientific Officer.

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder that causes tumors to form in vital organs, primarily the brain, heart, eyes, kidneys, lungs and skin. It’s also the leading genetic cause of both autism and epilepsy.  Approximately 50,000 people in the United States suffer from the disease, and it has an estimated incidence of 1 in 6,000 live births.  More than 1 million people world wide have TSC.

“Our goal with this white paper was to identify key areas of TSC clinical care and research where significant progress has been made, areas where research is needed, the barriers to progress in TSC research, and the unmet clinical needs of people with TSC,” explains TS Alliance President & CEO Kari Luther Rosbeck.

“Dr. Whittemore interviewed 27 key opinion leaders to assess these issues, and the resulting publication provides a road map of where we’ve been, but more importantly, where TSC research needs to go to ensure a better quality of life for anyone affected by TSC.” The publication describes key discoveries that led to recent clinical trials, which are providing new treatment strategies.

Such achievements in TSC research include the identification of the genes causing TSC and the definition of the role of these genes in cellular pathways.  While the cure for TSC has not been found, new, additional treatments offering the best quality of life for those with TSC while maintaining their health will continue to be indentified over the coming decade.

Formed in 1974, the TS Alliance is the only U.S.-based non-profit organization dedicated to finding a cure for TSC while improving the lives of those affected.  For more information, visit www.tsalliance.org or call 800-225-6872.  The white paper is available for download at www.tsalliance.org/documents/TS_Alliance_White_Paper.pdf.

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