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Transgenomic to Share Variant Information from Tuberous Sclerosis Complex Tests in Database

NEW YORK (GenomeWeb) – Transgenomic announced it will work with the Tuberous Sclerosis Alliance to share deidentified variant data in an international database from genetic tests it performs on patients with tuberous sclerosis complex.

Transgenomic markets genetic tests for TSC diagnosis, a disease that impacts one million people globally and 50,000 patients in the US. "We … 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," Paul Kinnon, CEO of Transgenomic, said in a statement.

Leiden University Medical Center hosts the database and researchers at University College London curate it. TS Alliance and the Tuberous Sclerosis Association also provide support for the database, which was established to help advance understanding and treatments for TSC.

TSC is caused by mutations in the TSC1 or TSC2 genes, and patients' symptoms can vary from mild to severe, causing tumors in their brain and other organs, such as the heart, eyes, and lungs. Patients can also suffer seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, as well as diseases impacting the lungs and kidneys.