Transgenomic entered a collaboration with the Tuberous Sclerosis (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 disease. The database is hosted at the Leiden University Medical Center and curated by researchers at University College London. It is maintained and supported by the TS Alliance and the U.K.-based Tuberous Sclerosis Association.

Tuberous sclerosis complex is a multisystem 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. TSC is caused by a mutation of either of two genes, TSC1 and TSC2, which code for proteins that act as tumor growth suppressors.

Transgenomic focuses on cardiac genetic testing designed to detect gene mutations which indicate cardiac disorders. In April, the company agreed to provide genetic profiling services for Raptor Pharmaceuticals' trial evaluating RP103 (cysteamine bitartrate) as a possible treatment for Leigh syndrome and other inherited mitochondrial disorders.








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