Tuberous Sclerosis

HomePatientsLung Disease Week at the ATS2016 ▶ Tuberous Sclerosis
Tuberous Sclerosis Week

Tuberous Sclerosis

Welcome Message

We 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. Tuberous Sclerosis 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 lungs that is particular to women of child-bearing age. While the lung manifestation of Tuberous Sclerosis is identical to that of LAM, Tuberous Sclerosis occurs in both males and females. Although many patients with Tuberous Sclerosis 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. The organ involvement and symptoms of Tuberous Sclerosis can be quite variable from patient to patient and even within families. Management options are limited in Tuberous Sclerosis but ongoing research in patients with Tuberous Sclerosis 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 Tuberous Sclerosis. We hope to provide resources for both clinicians and patients as well as continue to support research pursuits related to Tuberous Sclerosis and LAM.

 

Robin Deterding, MD

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

Donna Appell, RN

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
Member, 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.