Tuberous Sclerosis

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Tuberous Sclerosis Week

Tuberous Sclerosis

Welcome Message

It is our pleasure to welcome you to Tuberous Sclerosis week at the ATS.   Tuberous Sclerosis Complex (TSC) is a rare genetic neurocutaneous syndrome that can affect multiple organ systems.  TSC is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 gene which lead to the formation of benign tumors and cysts affecting the brain, lungs, kidneys, heart, eyes and skin.  The lung involvement is identical to the cystic lung disease lymphangioleiomyomatosis (LAM).  LAM is a disorder affecting the lung that is particular to women of childbearing age.  While the lung manifestation of TSC is identical to that of LAM, TSC occurs in both males and females.  Although many patients with TSC demonstrate characteristic skin lesions, quality of life is usually most affected by the neurologic involvement during childhood and adolescence.  These symptoms include seizures, learning disorders and cognitive impairment.  While males are more predominantly affected with these manifestations, the cystic lung disease is noted more in females without neurological involvement.  The organ involvement and symptoms of TSC can be variable from patient to patient and even within families.  Management options are limited in TSC but ongoing research in patients with TSC and LAM has shined some light on the mechanistic target of rapamycin (mTOR) pathway and the inhibition of this pathway as a therapeutic target.   With our PAR partner, the Tuberous Sclerosis Alliance, we aim to increase awareness of TSC.  We hope to provide resources for both clinicians and patients as well as continue to support research pursuits related to TSC and LAM.

 

Ganesh Raghu, MD 

Ganesh Raghu, MD     
Adjunct Professor, Laboratory Medicine
Division of Pulmonary and Critical Care Medicine
Director, Interstitial Lung Disease/Sarcoidosis/Pulmonary Fibrosis Program

Lawrence Ho, MD

Lawrence Ho, MD
Clinical Assistant Professor
Division of Pulmonary and Critical Care Medicine

Kari Luther Rosbeck

Kari Luther Rosbeck
President and CEO of Tuberous Sclerosis Alliance
Membership Chair, ATS Public Advisory Roundtable

 

ATS Tuberous Sclerosis PARTNER
The Tuberous Sclerosis Alliance

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Formed in 1974 by four mothers, the Tuberous Sclerosis Alliance is dedicated to finding a cure for Tuberous Sclerosis Complex (TSC) while improving the lives of those affected.