TRANSGENOMIC COLLABORATES WITH RESEARCHERS TO ADVANCE UNDERSTANDING OF GENETIC DISEASE TUBEROUS SCLEROSIS
OMAHA, Neb. — Transgenomic, Inc. (NASDAQ: TBIO), a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through advanced diagnostic tests and clinical and research services, today announced that it is collaborating with the Tuberous Sclerosis Alliance (TS Alliance) by sharing its data on genetic variants in an international database for the genetic disease tuberous sclerosis complex (TSC). Transgenomic offers genetic testing for the differential and definitive diagnosis of TSC. The company has agreed to provide anonymized information on genetic variants from its patient testing services to the TSC Variant Database, established to support advances in the understanding and treatment of the condition. Maintenance of this database, which is hosted at the Leiden University Medical Center and curated by researchers at University College London, is supported by the TS Alliance and the UK-based Tuberous Sclerosis Association.
“Our goal of providing diagnostic answers to TSC patients is aligned with these organizations’ goal of finding better treatments for this genetic disorder, which can be a devastating condition with limited therapeutic options,” said Paul Kinnon, CEO of Transgenomic. “We welcome the opportunity to collaborate with organizations that are striving to improve TSC patient outcomes and are pleased to know that with every TSC sample we test, Transgenomic is supporting the committed researchers who are searching for ways to improve the lives of all those affected by TSC.”
Tuberous sclerosis complex is a multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs, such as the kidneys, heart, eyes, lungs, and skin. Symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease. Due to the highly variable nature of the condition, some patients have mild disease while others may be severely affected. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for proteins that act as tumor growth suppressors. About one million people worldwide are estimated to have TSC, with approximately 50,000 in the U.S.
The Tuberous Sclerosis Alliance was founded in 1974 and is dedicated to finding a cure for TSC, while improving the lives of those affected. For more information, visit www.tsalliance.org/.
For more information on Transgenomic’s genetic tests for TSC, visit www.transgenomic.com/labs/neurology/tsc-tuberous-sclerosis-complex
About Transgenomic
Transgenomic, Inc. is a global biotechnology company advancing personalized medicine in cardiology, oncology, and inherited diseases through advanced diagnostic technologies, such as its revolutionary ICE COLD-PCRTM and its unique genetic tests provided through its Patient Testing business. The company also provides specialized clinical and research services to biopharmaceutical companies developing targeted therapies and sells equipment, reagents and other consumables for applications in molecular testing and cytogenetics. Transgenomic’sdiagnostic technologies are designed to improve medical diagnoses and patient outcomes.

